Canonical Allele Identifier: CA12722206
Gene: FGFR1 HGNC NCBI

Linked Data

dbSNP Id: rs6996321
gnomAD v2: 8-38322346-A-G
gnomAD v3: 8-38464828-A-G
gnomAD v4: 8-38464828-A-G
MyVariant Identifiers: chr8:g.38322346A>G (hg19) chr8:g.38464828A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.38464828A>G , CM000670.2:g.38464828A>G GRCh38
NC_000008.10:g.38322346A>G , CM000670.1:g.38322346A>G GRCh37
NC_000008.9:g.38441503A>G NCBI36
NG_007729.1:g.9007T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000703405.1:c.-89+3153T>C ENSP00000515291.1:n.-89+3153T>C
ENST00000341462.9:c.-89+3153T>C ENSP00000340636.7:n.-89+3153T>C
ENST00000425967.8:c.-89+2844T>C ENSP00000393312.4:n.-89+2844T>C
ENST00000683276.1:n.621+3153T>C
ENST00000683765.1:c.-89+3153T>C ENSP00000507039.1:n.-89+3153T>C
ENST00000683795.1:n.621+3153T>C
ENST00000683815.1:c.-89+3153T>C ENSP00000507997.1:n.-89+3153T>C
ENST00000683948.1:n.621+3153T>C
ENST00000684654.1:c.-89+3153T>C ENSP00000507205.1:n.-89+3153T>C
ENST00000447712.7:c.-89+3153T>C MANE Select ENSP00000400162.2:n.-89+3153T>C
ENST00000649678.1:c.-137+2844T>C ENSP00000497266.1:n.-137+2844T>C
ENST00000674189.1:c.-89+3153T>C ENSP00000501345.1:n.-89+3153T>C
ENST00000674380.1:c.-89+3153T>C ENSP00000501514.1:n.-89+3153T>C
ENST00000674474.1:n.172+3153T>C
ENST00000326324.10:c.-89+3153T>C ENSP00000327229.6:n.-89+3153T>C
ENST00000335922.9:c.-181+3153T>C ENSP00000337247.5:n.-181+3153T>C
ENST00000341462.8:c.-89+3153T>C ENSP00000340636.6:n.-89+3153T>C
ENST00000356207.9:c.-89+3153T>C ENSP00000348537.5:n.-89+3153T>C
ENST00000397090.4:n.170+3153T>C
ENST00000397091.9:c.-89+3153T>C ENSP00000380280.5:n.-89+3153T>C
ENST00000397108.8:c.-249+2844T>C ENSP00000380297.4:n.-249+2844T>C
ENST00000397113.6:c.-89+2844T>C ENSP00000380302.2:n.-89+2844T>C
ENST00000413133.6:c.-227+2844T>C ENSP00000400708.2:n.-227+2844T>C
ENST00000425967.7:c.-150+2844T>C ENSP00000393312.3:n.-150+2844T>C
ENST00000434187.5:c.-212+1714T>C ENSP00000392645.1:n.-212+1714T>C
ENST00000447712.6:c.-89+3153T>C ENSP00000400162.2:n.-89+3153T>C
ENST00000470826.5:n.328+3153T>C
ENST00000496296.5:n.655+3153T>C
ENST00000525001.5:c.-89+2844T>C ENSP00000434712.1:n.-89+2844T>C
ENST00000526742.5:c.-89+2844T>C ENSP00000433569.1:n.-89+2844T>C
ENST00000529552.5:c.-89+2844T>C ENSP00000435283.1:n.-89+2844T>C
ENST00000530568.5:c.-89+1714T>C ENSP00000434473.1:n.-89+1714T>C
ENST00000532791.5:c.-89+3153T>C ENSP00000432972.1:n.-89+3153T>C
ENST00000533668.5:c.-117+2844T>C ENSP00000434869.1:n.-117+2844T>C
ENST00000619564.3:c.-89+3153T>C ENSP00000484553.1:n.-89+3153T>C
NM_001174063.1:c.-89+3153T>C NP_001167534.1:n.-89+3153T>C
NM_001174064.1:c.-181+3153T>C NP_001167535.1:n.-181+3153T>C
NM_001174065.1:c.-89+2844T>C NP_001167536.1:n.-89+2844T>C
NM_001174066.1:c.-89+2844T>C NP_001167537.1:n.-89+2844T>C
NM_001174067.1:c.-150+2844T>C NP_001167538.1:n.-150+2844T>C
NM_015850.3:c.-89+3153T>C NP_056934.2:n.-89+3153T>C
NM_023105.2:c.-89+3153T>C NP_075593.1:n.-89+3153T>C
NM_023106.2:c.-89+3153T>C NP_075594.1:n.-89+3153T>C
NM_023110.2:c.-89+3153T>C NP_075598.2:n.-89+3153T>C
XM_006716303.2:c.-89+3153T>C XP_006716366.1:n.-89+3153T>C
XM_006716304.1:c.-89+2844T>C XP_006716367.1:n.-89+2844T>C
XM_006716305.2:c.-227+2844T>C XP_006716368.1:n.-227+2844T>C
XM_006716306.2:c.-89+3153T>C XP_006716369.1:n.-89+3153T>C
XM_006716307.1:c.-89+2844T>C XP_006716370.1:n.-89+2844T>C
XM_006716310.2:c.-89+3153T>C XP_006716373.1:n.-89+3153T>C
XM_006716311.1:c.-89+2844T>C XP_006716374.1:n.-89+2844T>C
XM_006716313.2:c.-89+3153T>C XP_006716376.1:n.-89+3153T>C
XM_006716314.1:c.-89+2844T>C XP_006716377.1:n.-89+2844T>C
NM_001354367.1:c.-89+3153T>C NP_001341296.1:n.-89+3153T>C
NM_001354368.1:c.-89+3153T>C NP_001341297.1:n.-89+3153T>C
NM_001354369.1:c.-89+2844T>C NP_001341298.1:n.-89+2844T>C
NM_001354370.1:c.-89+3153T>C NP_001341299.1:n.-89+3153T>C
XM_006716303.3:c.-89+3153T>C XP_006716366.1:n.-89+3153T>C
XM_006716310.3:c.-89+3153T>C XP_006716373.1:n.-89+3153T>C
XM_006716314.2:c.-89+2844T>C XP_006716377.1:n.-89+2844T>C
XM_017013221.1:c.-212+2844T>C XP_016868710.1:n.-212+2844T>C
XM_017013222.2:c.-89+3153T>C XP_016868711.1:n.-89+3153T>C
XM_017013224.2:c.-89+3153T>C XP_016868713.1:n.-89+3153T>C
NM_001174063.2:c.-89+3153T>C NP_001167534.1:n.-89+3153T>C
NM_001174064.2:c.-181+3153T>C NP_001167535.1:n.-181+3153T>C
NM_001174065.2:c.-89+2844T>C NP_001167536.1:n.-89+2844T>C
NM_001174066.2:c.-89+2844T>C NP_001167537.1:n.-89+2844T>C
NM_001354368.2:c.-89+3153T>C NP_001341297.1:n.-89+3153T>C
NM_015850.4:c.-89+3153T>C NP_056934.2:n.-89+3153T>C
NM_023105.3:c.-89+3153T>C NP_075593.1:n.-89+3153T>C
NM_023106.3:c.-89+3153T>C NP_075594.1:n.-89+3153T>C
NM_023110.3:c.-89+3153T>C MANE Select NP_075598.2:n.-89+3153T>C
NM_001174067.2:c.-150+2844T>C NP_001167538.1:n.-150+2844T>C
NM_001354367.2:c.-89+3153T>C NP_001341296.1:n.-89+3153T>C
NM_001354369.2:c.-89+2844T>C NP_001341298.1:n.-89+2844T>C
NM_001354370.2:c.-89+3153T>C NP_001341299.1:n.-89+3153T>C
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