Canonical Allele Identifier: CA460394349

Gene: FGFR1

Linked Data

• dbSNP Id: rs1438923182
• gnomAD v2: 8-38271230-G-A
• gnomAD v3: 8-38413712-G-A
• gnomAD v4: 8-38413712-G-A
• MyVariant Identifiers: chr8:g.38271230G>A (hg19) ; chr8:g.38413712G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38413712G>A , CM000670.2:g.38413712G>A	GRCh38
NC_000008.10:g.38271230G>A , CM000670.1:g.38271230G>A	GRCh37
NC_000008.9:g.38390387G>A	NCBI36
NG_007729.1:g.60123C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000703405.1:c.2385C>T	ENSP00000515291.1:p.Val795=
ENST00000341462.9:c.2280+206C>T	ENSP00000340636.7:n.2280+206C>T
ENST00000425967.8:c.2280+206C>T	ENSP00000393312.4:n.2280+206C>T
ENST00000524528.2:n.3278C>T
ENST00000682398.1:n.1625C>T
ENST00000683132.1:n.1188C>T
ENST00000683765.1:c.2472+206C>T	ENSP00000507039.1:n.2472+206C>T
ENST00000683815.1:c.2373C>T	ENSP00000507997.1:p.Val791=
ENST00000683948.1:n.3073C>T
ENST00000684654.1:c.2106C>T	ENSP00000507205.1:p.Val702=
ENST00000447712.7:c.2385C>T MANE Select	ENSP00000400162.2:p.Val795=
ENST00000649678.1:c.2373C>T	ENSP00000497266.1:p.Val791=
ENST00000674189.1:c.*1938+206C>T	ENSP00000501345.1:n.*1938+206C>T
ENST00000674380.1:c.*2352C>T	ENSP00000501514.1:n.*2352C>T
ENST00000674474.1:n.3879C>T
ENST00000326324.10:c.2112C>T	ENSP00000327229.6:p.Val704=
ENST00000335922.9:c.2355C>T	ENSP00000337247.5:p.Val785=
ENST00000341462.8:c.*1435C>T	ENSP00000340636.6:n.*1435C>T
ENST00000356207.9:c.2118C>T	ENSP00000348537.5:p.Val706=
ENST00000397091.9:c.2379C>T	ENSP00000380280.5:p.Val793=
ENST00000397103.5:c.2118C>T	ENSP00000380292.1:p.Val706=
ENST00000397108.8:c.2379C>T	ENSP00000380297.4:p.Val793=
ENST00000397113.6:c.2379C>T	ENSP00000380302.2:p.Val793=
ENST00000425967.7:c.2478C>T	ENSP00000393312.3:p.Val826=
ENST00000447712.6:c.2385C>T	ENSP00000400162.2:p.Val795=
ENST00000526570.5:n.4664C>T
ENST00000526688.1:n.59+206C>T
ENST00000531196.5:c.596C>T	ENSP00000434800.1:n.596C>T
ENST00000532791.5:c.2379C>T	ENSP00000432972.1:p.Val793=
ENST00000619564.3:c.*1280C>T	ENSP00000484553.1:n.*1280C>T
NM_001174063.1:c.2379C>T	NP_001167534.1:p.Val793=
NM_001174064.1:c.2355C>T	NP_001167535.1:p.Val785=
NM_001174065.1:c.2379C>T	NP_001167536.1:p.Val793=
NM_001174066.1:c.2118C>T	NP_001167537.1:p.Val706=
NM_001174067.1:c.2478C>T	NP_001167538.1:p.Val826=
NM_015850.3:c.2379C>T	NP_056934.2:p.Val793=
NM_023105.2:c.2118C>T	NP_075593.1:p.Val706=
NM_023106.2:c.2112C>T	NP_075594.1:p.Val704=
NM_023110.2:c.2385C>T	NP_075598.2:p.Val795=
XM_006716303.2:c.2292+206C>T	XP_006716366.1:n.2292+206C>T
XM_006716304.1:c.2292+206C>T	XP_006716367.1:n.2292+206C>T
XM_006716305.2:c.2292+206C>T	XP_006716368.1:n.2292+206C>T
XM_006716306.2:c.2286+206C>T	XP_006716369.1:n.2286+206C>T
XM_006716307.1:c.2286+206C>T	XP_006716370.1:n.2286+206C>T
XM_006716309.2:c.2268+206C>T	XP_006716372.1:n.2268+206C>T
XM_006716310.2:c.2025+206C>T	XP_006716373.1:n.2025+206C>T
XM_006716311.1:c.2025+206C>T	XP_006716374.1:n.2025+206C>T
XM_006716312.1:c.2025+206C>T	XP_006716375.1:n.2025+206C>T
XM_006716313.2:c.2019+206C>T	XP_006716376.1:n.2019+206C>T
XM_006716314.1:c.2019+206C>T	XP_006716377.1:n.2019+206C>T
XM_011544443.1:c.2391+206C>T	XP_011542745.1:n.2391+206C>T
XM_011544444.1:c.2385+206C>T	XP_011542746.1:n.2385+206C>T
XM_011544445.1:c.2385+206C>T	XP_011542747.1:n.2385+206C>T
XM_011544446.1:c.2484C>T	XP_011542748.1:p.Val828=
XM_011544447.1:c.2478C>T	XP_011542749.1:p.Val826=
XM_011544448.1:c.2124+206C>T	XP_011542750.1:n.2124+206C>T
XM_011544449.1:c.2118+206C>T	XP_011542751.1:n.2118+206C>T
XM_011544450.1:c.2211C>T	XP_011542752.1:p.Val737=
XM_011544451.1:c.2001+206C>T	XP_011542753.1:n.2001+206C>T
NM_001354367.1:c.2286+206C>T	NP_001341296.1:n.2286+206C>T
NM_001354368.1:c.2106C>T	NP_001341297.1:p.Val702=
NM_001354369.1:c.2280+206C>T	NP_001341298.1:n.2280+206C>T
NM_001354370.1:c.2019+206C>T	NP_001341299.1:n.2019+206C>T
XM_006716303.3:c.2292+206C>T	XP_006716366.1:n.2292+206C>T
XM_006716310.3:c.2025+206C>T	XP_006716373.1:n.2025+206C>T
XM_006716312.2:c.2025+206C>T	XP_006716375.1:n.2025+206C>T
XM_006716314.2:c.2019+206C>T	XP_006716377.1:n.2019+206C>T
XM_011544443.2:c.2391+206C>T	XP_011542745.1:n.2391+206C>T
XM_011544445.2:c.2385+206C>T	XP_011542747.1:n.2385+206C>T
XM_011544446.2:c.2484C>T	XP_011542748.1:p.Val828=
XM_011544447.2:c.2478C>T	XP_011542749.1:p.Val826=
XM_011544450.2:c.2211C>T	XP_011542752.1:p.Val737=
XM_017013219.1:c.2379+206C>T	XP_016868708.1:n.2379+206C>T
XM_017013220.1:c.2472C>T	XP_016868709.1:p.Val824=
XM_017013221.1:c.2292+206C>T	XP_016868710.1:n.2292+206C>T
XM_017013222.2:c.2286+206C>T	XP_016868711.1:n.2286+206C>T
XM_017013224.2:c.2373C>T	XP_016868713.1:p.Val791=
XM_017013225.2:c.2373C>T	XP_016868714.1:p.Val791=
XM_017013226.1:c.2211C>T	XP_016868715.1:p.Val737=
XM_017013227.1:c.2205C>T	XP_016868716.1:p.Val735=
XM_017013229.2:c.1320+206C>T	XP_016868718.1:n.1320+206C>T
XM_017013230.1:c.1413C>T	XP_016868719.1:p.Val471=
XM_024447097.1:c.2268+206C>T	XP_024302865.1:n.2268+206C>T
XR_001745495.1:n.2658C>T
XR_001745496.1:n.2565+206C>T
NM_001174063.2:c.2379C>T	NP_001167534.1:p.Val793=
NM_001174064.2:c.2355C>T	NP_001167535.1:p.Val785=
NM_001174065.2:c.2379C>T	NP_001167536.1:p.Val793=
NM_001174066.2:c.2118C>T	NP_001167537.1:p.Val706=
NM_001354368.2:c.2106C>T	NP_001341297.1:p.Val702=
NM_015850.4:c.2379C>T	NP_056934.2:p.Val793=
NM_023105.3:c.2118C>T	NP_075593.1:p.Val706=
NM_023106.3:c.2112C>T	NP_075594.1:p.Val704=
NM_023110.3:c.2385C>T MANE Select	NP_075598.2:p.Val795=
NM_001174067.2:c.2478C>T	NP_001167538.1:p.Val826=
NM_001354367.2:c.2286+206C>T	NP_001341296.1:n.2286+206C>T
NM_001354369.2:c.2280+206C>T	NP_001341298.1:n.2280+206C>T
NM_001354370.2:c.2019+206C>T	NP_001341299.1:n.2019+206C>T