Canonical Allele Identifier: CA10581220
Gene: FGF8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.101771551G>A , CM000672.2:g.101771551G>A GRCh38
NC_000010.10:g.103531308G>A , CM000672.1:g.103531308G>A GRCh37
NC_000010.9:g.103521298G>A NCBI36
NG_007151.1:g.9520C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000320185.7:c.356C>T MANE Select ENSP00000321797.2:p.Thr119Met
ENST00000618991.5:c.44C>T ENSP00000484420.1:p.Thr15Met
ENST00000344255.8:c.323C>T ENSP00000340039.3:p.Thr108Met
ENST00000320185.6:c.356C>T ENSP00000321797.2:p.Thr119Met
ENST00000344255.7:c.323C>T ENSP00000340039.3:p.Thr108Met
ENST00000346714.7:c.236C>T ENSP00000344306.3:p.Thr79Met
ENST00000347978.2:c.269C>T ENSP00000321945.2:p.Thr90Met
ENST00000469792.6:c.*320C>T ENSP00000473299.1:n.*320C>T
ENST00000485728.1:n.232C>T
ENST00000618991.4:c.44C>T ENSP00000484420.1:p.Thr15Met
NM_001206389.1:c.44C>T NP_001193318.1:p.Thr15Met
NM_006119.4:c.269C>T NP_006110.1:p.Thr90Met
NM_033163.3:c.356C>T NP_149353.1:p.Thr119Met
NM_033164.3:c.323C>T NP_149354.1:p.Thr108Met
NM_033165.3:c.236C>T NP_149355.1:p.Thr79Met
XM_011539509.1:c.278C>T XP_011537811.1:p.Thr93Met
XR_946251.1:n.332G>A
XR_946252.1:n.263G>A
XR_946253.1:n.261G>A
XR_946252.2:n.353G>A
XR_946253.2:n.351G>A
NM_006119.5:c.269C>T NP_006110.1:p.Thr90Met
NM_033163.4:c.356C>T NP_149353.1:p.Thr119Met
NM_033164.4:c.323C>T NP_149354.1:p.Thr108Met
NM_033165.4:c.236C>T NP_149355.1:p.Thr79Met
NM_001206389.2:c.44C>T NP_001193318.1:p.Thr15Met
NM_006119.6:c.269C>T NP_006110.1:p.Thr90Met
NM_033163.5:c.356C>T MANE Select NP_149353.1:p.Thr119Met
NM_033165.5:c.236C>T NP_149355.1:p.Thr79Met