Canonical Allele Identifier: CA370727589
Gene: FGFR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2944795
ClinVar RCV Id: RCV003808497
dbSNP Id: rs121909644
gnomAD v4: 8-38413795-C-T
MyVariant Identifiers: chr8:g.38271313C>T (hg19) chr8:g.38413795C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38413795C>T , CM000670.2:g.38413795C>T GRCh38
NC_000008.10:g.38271313C>T , CM000670.1:g.38271313C>T GRCh37
NC_000008.9:g.38390470C>T NCBI36
NG_007729.1:g.60040G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000703405.1:c.2302G>A ENSP00000515291.1:p.Asp768Asn
ENST00000341462.9:c.2280+123G>A ENSP00000340636.7:n.2280+123G>A
ENST00000425967.8:c.2280+123G>A ENSP00000393312.4:n.2280+123G>A
ENST00000524528.2:n.3195G>A
ENST00000682398.1:n.1542G>A
ENST00000683132.1:n.1105G>A
ENST00000683765.1:c.2472+123G>A ENSP00000507039.1:n.2472+123G>A
ENST00000683815.1:c.2290G>A ENSP00000507997.1:p.Asp764Asn
ENST00000683948.1:n.2990G>A
ENST00000684654.1:c.2023G>A ENSP00000507205.1:p.Asp675Asn
ENST00000447712.7:c.2302G>A MANE Select ENSP00000400162.2:p.Asp768Asn
ENST00000649678.1:c.2290G>A ENSP00000497266.1:p.Asp764Asn
ENST00000674189.1:c.*1938+123G>A ENSP00000501345.1:n.*1938+123G>A
ENST00000674380.1:c.*2269G>A ENSP00000501514.1:n.*2269G>A
ENST00000674474.1:n.3796G>A
ENST00000326324.10:c.2029G>A ENSP00000327229.6:p.Asp677Asn
ENST00000335922.9:c.2272G>A ENSP00000337247.5:p.Asp758Asn
ENST00000341462.8:c.*1352G>A ENSP00000340636.6:n.*1352G>A
ENST00000356207.9:c.2035G>A ENSP00000348537.5:p.Asp679Asn
ENST00000397091.9:c.2296G>A ENSP00000380280.5:p.Asp766Asn
ENST00000397103.5:c.2035G>A ENSP00000380292.1:p.Asp679Asn
ENST00000397108.8:c.2296G>A ENSP00000380297.4:p.Asp766Asn
ENST00000397113.6:c.2296G>A ENSP00000380302.2:p.Asp766Asn
ENST00000425967.7:c.2395G>A ENSP00000393312.3:p.Asp799Asn
ENST00000447712.6:c.2302G>A ENSP00000400162.2:p.Asp768Asn
ENST00000526570.5:n.4581G>A
ENST00000526688.1:n.59+123G>A
ENST00000531196.5:c.513G>A ENSP00000434800.1:n.513G>A
ENST00000532791.5:c.2296G>A ENSP00000432972.1:p.Asp766Asn
ENST00000619564.3:c.*1197G>A ENSP00000484553.1:n.*1197G>A
NM_001174063.1:c.2296G>A NP_001167534.1:p.Asp766Asn
NM_001174064.1:c.2272G>A NP_001167535.1:p.Asp758Asn
NM_001174065.1:c.2296G>A NP_001167536.1:p.Asp766Asn
NM_001174066.1:c.2035G>A NP_001167537.1:p.Asp679Asn
NM_001174067.1:c.2395G>A NP_001167538.1:p.Asp799Asn
NM_015850.3:c.2296G>A NP_056934.2:p.Asp766Asn
NM_023105.2:c.2035G>A NP_075593.1:p.Asp679Asn
NM_023106.2:c.2029G>A NP_075594.1:p.Asp677Asn
NM_023110.2:c.2302G>A NP_075598.2:p.Asp768Asn
XM_006716303.2:c.2292+123G>A XP_006716366.1:n.2292+123G>A
XM_006716304.1:c.2292+123G>A XP_006716367.1:n.2292+123G>A
XM_006716305.2:c.2292+123G>A XP_006716368.1:n.2292+123G>A
XM_006716306.2:c.2286+123G>A XP_006716369.1:n.2286+123G>A
XM_006716307.1:c.2286+123G>A XP_006716370.1:n.2286+123G>A
XM_006716309.2:c.2268+123G>A XP_006716372.1:n.2268+123G>A
XM_006716310.2:c.2025+123G>A XP_006716373.1:n.2025+123G>A
XM_006716311.1:c.2025+123G>A XP_006716374.1:n.2025+123G>A
XM_006716312.1:c.2025+123G>A XP_006716375.1:n.2025+123G>A
XM_006716313.2:c.2019+123G>A XP_006716376.1:n.2019+123G>A
XM_006716314.1:c.2019+123G>A XP_006716377.1:n.2019+123G>A
XM_011544443.1:c.2391+123G>A XP_011542745.1:n.2391+123G>A
XM_011544444.1:c.2385+123G>A XP_011542746.1:n.2385+123G>A
XM_011544445.1:c.2385+123G>A XP_011542747.1:n.2385+123G>A
XM_011544446.1:c.2401G>A XP_011542748.1:p.Asp801Asn
XM_011544447.1:c.2395G>A XP_011542749.1:p.Asp799Asn
XM_011544448.1:c.2124+123G>A XP_011542750.1:n.2124+123G>A
XM_011544449.1:c.2118+123G>A XP_011542751.1:n.2118+123G>A
XM_011544450.1:c.2128G>A XP_011542752.1:p.Asp710Asn
XM_011544451.1:c.2001+123G>A XP_011542753.1:n.2001+123G>A
NM_001354367.1:c.2286+123G>A NP_001341296.1:n.2286+123G>A
NM_001354368.1:c.2023G>A NP_001341297.1:p.Asp675Asn
NM_001354369.1:c.2280+123G>A NP_001341298.1:n.2280+123G>A
NM_001354370.1:c.2019+123G>A NP_001341299.1:n.2019+123G>A
XM_006716303.3:c.2292+123G>A XP_006716366.1:n.2292+123G>A
XM_006716310.3:c.2025+123G>A XP_006716373.1:n.2025+123G>A
XM_006716312.2:c.2025+123G>A XP_006716375.1:n.2025+123G>A
XM_006716314.2:c.2019+123G>A XP_006716377.1:n.2019+123G>A
XM_011544443.2:c.2391+123G>A XP_011542745.1:n.2391+123G>A
XM_011544445.2:c.2385+123G>A XP_011542747.1:n.2385+123G>A
XM_011544446.2:c.2401G>A XP_011542748.1:p.Asp801Asn
XM_011544447.2:c.2395G>A XP_011542749.1:p.Asp799Asn
XM_011544450.2:c.2128G>A XP_011542752.1:p.Asp710Asn
XM_017013219.1:c.2379+123G>A XP_016868708.1:n.2379+123G>A
XM_017013220.1:c.2389G>A XP_016868709.1:p.Asp797Asn
XM_017013221.1:c.2292+123G>A XP_016868710.1:n.2292+123G>A
XM_017013222.2:c.2286+123G>A XP_016868711.1:n.2286+123G>A
XM_017013224.2:c.2290G>A XP_016868713.1:p.Asp764Asn
XM_017013225.2:c.2290G>A XP_016868714.1:p.Asp764Asn
XM_017013226.1:c.2128G>A XP_016868715.1:p.Asp710Asn
XM_017013227.1:c.2122G>A XP_016868716.1:p.Asp708Asn
XM_017013229.2:c.1320+123G>A XP_016868718.1:n.1320+123G>A
XM_017013230.1:c.1330G>A XP_016868719.1:p.Asp444Asn
XM_024447097.1:c.2268+123G>A XP_024302865.1:n.2268+123G>A
XR_001745495.1:n.2575G>A
XR_001745496.1:n.2565+123G>A
NM_001174063.2:c.2296G>A NP_001167534.1:p.Asp766Asn
NM_001174064.2:c.2272G>A NP_001167535.1:p.Asp758Asn
NM_001174065.2:c.2296G>A NP_001167536.1:p.Asp766Asn
NM_001174066.2:c.2035G>A NP_001167537.1:p.Asp679Asn
NM_001354368.2:c.2023G>A NP_001341297.1:p.Asp675Asn
NM_015850.4:c.2296G>A NP_056934.2:p.Asp766Asn
NM_023105.3:c.2035G>A NP_075593.1:p.Asp679Asn
NM_023106.3:c.2029G>A NP_075594.1:p.Asp677Asn
NM_023110.3:c.2302G>A MANE Select NP_075598.2:p.Asp768Asn
NM_001174067.2:c.2395G>A NP_001167538.1:p.Asp799Asn
NM_001354367.2:c.2286+123G>A NP_001341296.1:n.2286+123G>A
NM_001354369.2:c.2280+123G>A NP_001341298.1:n.2280+123G>A
NM_001354370.2:c.2019+123G>A NP_001341299.1:n.2019+123G>A
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