Canonical Allele Identifier: CA5657571

Gene: FGF8

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101770595C>T , CM000672.2:g.101770595C>T	GRCh38
NC_000010.10:g.103530352C>T , CM000672.1:g.103530352C>T	GRCh37
NC_000010.9:g.103520342C>T	NCBI36
NG_007151.1:g.10476G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320185.7:c.469G>A MANE Select	ENSP00000321797.2:p.Val157Ile
ENST00000618991.5:c.157G>A	ENSP00000484420.1:p.Val53Ile
ENST00000344255.8:c.436G>A	ENSP00000340039.3:p.Val146Ile
ENST00000320185.6:c.469G>A	ENSP00000321797.2:p.Val157Ile
ENST00000344255.7:c.436G>A	ENSP00000340039.3:p.Val146Ile
ENST00000346714.7:c.349G>A	ENSP00000344306.3:p.Val117Ile
ENST00000347978.2:c.382G>A	ENSP00000321945.2:p.Val128Ile
ENST00000469792.6:c.*433G>A	ENSP00000473299.1:n.*433G>A
ENST00000485728.1:n.345G>A
ENST00000618991.4:c.157G>A	ENSP00000484420.1:p.Val53Ile
NM_001206389.1:c.157G>A	NP_001193318.1:p.Val53Ile
NM_006119.4:c.382G>A	NP_006110.1:p.Val128Ile
NM_033163.3:c.469G>A	NP_149353.1:p.Val157Ile
NM_033164.3:c.436G>A	NP_149354.1:p.Val146Ile
NM_033165.3:c.349G>A	NP_149355.1:p.Val117Ile
XM_011539509.1:c.391G>A	XP_011537811.1:p.Val131Ile
XR_946251.1:n.176C>T
XR_946252.1:n.138-31C>T
XR_946253.1:n.176C>T
XR_946252.2:n.228-31C>T
XR_946253.2:n.266C>T
NM_006119.5:c.382G>A	NP_006110.1:p.Val128Ile
NM_033163.4:c.469G>A	NP_149353.1:p.Val157Ile
NM_033164.4:c.436G>A	NP_149354.1:p.Val146Ile
NM_033165.4:c.349G>A	NP_149355.1:p.Val117Ile
NM_001206389.2:c.157G>A	NP_001193318.1:p.Val53Ile
NM_006119.6:c.382G>A	NP_006110.1:p.Val128Ile
NM_033163.5:c.469G>A MANE Select	NP_149353.1:p.Val157Ile
NM_033165.5:c.349G>A	NP_149355.1:p.Val117Ile