Canonical Allele Identifier: CA377834322
Gene: FGF8 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.101771490C>A , CM000672.2:g.101771490C>A GRCh38
NC_000010.10:g.103531247C>A , CM000672.1:g.103531247C>A GRCh37
NC_000010.9:g.103521237C>A NCBI36
NG_007151.1:g.9581G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320185.7:c.417G>T MANE Select ENSP00000321797.2:p.Met139Ile
ENST00000618991.5:c.105G>T ENSP00000484420.1:p.Met35Ile
ENST00000344255.8:c.384G>T ENSP00000340039.3:p.Met128Ile
ENST00000320185.6:c.417G>T ENSP00000321797.2:p.Met139Ile
ENST00000344255.7:c.384G>T ENSP00000340039.3:p.Met128Ile
ENST00000346714.7:c.297G>T ENSP00000344306.3:p.Met99Ile
ENST00000347978.2:c.330G>T ENSP00000321945.2:p.Met110Ile
ENST00000469792.6:c.*381G>T ENSP00000473299.1:n.*381G>T
ENST00000485728.1:n.293G>T
ENST00000618991.4:c.105G>T ENSP00000484420.1:p.Met35Ile
NM_001206389.1:c.105G>T NP_001193318.1:p.Met35Ile
NM_006119.4:c.330G>T NP_006110.1:p.Met110Ile
NM_033163.3:c.417G>T NP_149353.1:p.Met139Ile
NM_033164.3:c.384G>T NP_149354.1:p.Met128Ile
NM_033165.3:c.297G>T NP_149355.1:p.Met99Ile
XM_011539509.1:c.339G>T XP_011537811.1:p.Met113Ile
XR_946251.1:n.278-7C>A
XR_946252.1:n.209-7C>A
XR_946253.1:n.207-7C>A
XR_946252.2:n.299-7C>A
XR_946253.2:n.297-7C>A
NM_006119.5:c.330G>T NP_006110.1:p.Met110Ile
NM_033163.4:c.417G>T NP_149353.1:p.Met139Ile
NM_033164.4:c.384G>T NP_149354.1:p.Met128Ile
NM_033165.4:c.297G>T NP_149355.1:p.Met99Ile
NM_001206389.2:c.105G>T NP_001193318.1:p.Met35Ile
NM_006119.6:c.330G>T NP_006110.1:p.Met110Ile
NM_033163.5:c.417G>T MANE Select NP_149353.1:p.Met139Ile
NM_033165.5:c.297G>T NP_149355.1:p.Met99Ile