Canonical Allele Identifier: CA5657539
Gene: FGF8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.101770422G>A , CM000672.2:g.101770422G>A GRCh38
NC_000010.10:g.103530179G>A , CM000672.1:g.103530179G>A GRCh37
NC_000010.9:g.103520169G>A NCBI36
NG_007151.1:g.10649C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320185.7:c.642C>T MANE Select ENSP00000321797.2:p.Thr214=
ENST00000618991.5:c.330C>T ENSP00000484420.1:p.Thr110=
ENST00000344255.8:c.609C>T ENSP00000340039.3:p.Thr203=
ENST00000320185.6:c.642C>T ENSP00000321797.2:p.Thr214=
ENST00000344255.7:c.609C>T ENSP00000340039.3:p.Thr203=
ENST00000346714.7:c.522C>T ENSP00000344306.3:p.Thr174=
ENST00000347978.2:c.555C>T ENSP00000321945.2:p.Thr185=
ENST00000469792.6:c.*606C>T ENSP00000473299.1:n.*606C>T
ENST00000485728.1:n.518C>T
ENST00000618991.4:c.330C>T ENSP00000484420.1:p.Thr110=
NM_001206389.1:c.330C>T NP_001193318.1:p.Thr110=
NM_006119.4:c.555C>T NP_006110.1:p.Thr185=
NM_033163.3:c.642C>T NP_149353.1:p.Thr214=
NM_033164.3:c.609C>T NP_149354.1:p.Thr203=
NM_033165.3:c.522C>T NP_149355.1:p.Thr174=
XM_011539509.1:c.564C>T XP_011537811.1:p.Thr188=
XR_946251.1:n.138-135G>A
XR_946252.1:n.138-204G>A
XR_946253.1:n.138-135G>A
XR_946252.2:n.228-204G>A
XR_946253.2:n.228-135G>A
NM_006119.5:c.555C>T NP_006110.1:p.Thr185=
NM_033163.4:c.642C>T NP_149353.1:p.Thr214=
NM_033164.4:c.609C>T NP_149354.1:p.Thr203=
NM_033165.4:c.522C>T NP_149355.1:p.Thr174=
NM_001206389.2:c.330C>T NP_001193318.1:p.Thr110=
NM_006119.6:c.555C>T NP_006110.1:p.Thr185=
NM_033163.5:c.642C>T MANE Select NP_149353.1:p.Thr214=
NM_033165.5:c.522C>T NP_149355.1:p.Thr174=