Canonical Allele Identifier: CA5657616

Gene: FGF8

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101771514G>A , CM000672.2:g.101771514G>A	GRCh38
NC_000010.10:g.103531271G>A , CM000672.1:g.103531271G>A	GRCh37
NC_000010.9:g.103521261G>A	NCBI36
NG_007151.1:g.9557C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_033163.5:c.393C>T MANE Select	NP_149353.1:p.Ala131=
ENST00000320185.7:c.393C>T MANE Select	ENSP00000321797.2:p.Ala131=
NM_001206389.1:c.81C>T	NP_001193318.1:p.Ala27=
NM_001206389.2:c.81C>T	NP_001193318.1:p.Ala27=
NM_006119.4:c.306C>T	NP_006110.1:p.Ala102=
NM_006119.5:c.306C>T	NP_006110.1:p.Ala102=
NM_006119.6:c.306C>T	NP_006110.1:p.Ala102=
NM_033163.3:c.393C>T	NP_149353.1:p.Ala131=
NM_033163.4:c.393C>T	NP_149353.1:p.Ala131=
NM_033164.3:c.360C>T	NP_149354.1:p.Ala120=
NM_033164.4:c.360C>T	NP_149354.1:p.Ala120=
NM_033165.3:c.273C>T	NP_149355.1:p.Ala91=
NM_033165.4:c.273C>T	NP_149355.1:p.Ala91=
NM_033165.5:c.273C>T	NP_149355.1:p.Ala91=
ENST00000320185.6:c.393C>T	ENSP00000321797.2:p.Ala131=
ENST00000344255.7:c.360C>T	ENSP00000340039.3:p.Ala120=
ENST00000344255.8:c.360C>T	ENSP00000340039.3:p.Ala120=
ENST00000346714.7:c.273C>T	ENSP00000344306.3:p.Ala91=
ENST00000347978.2:c.306C>T	ENSP00000321945.2:p.Ala102=
ENST00000469792.6:c.*357C>T	ENSP00000473299.1:n.*357C>T
ENST00000485728.1:n.269C>T
ENST00000618991.4:c.81C>T	ENSP00000484420.1:p.Ala27=
ENST00000618991.5:c.81C>T	ENSP00000484420.1:p.Ala27=
XM_011539509.1:c.315C>T	XP_011537811.1:p.Ala105=
XR_946251.1:n.295G>A
XR_946252.1:n.226G>A
XR_946252.2:n.316G>A
XR_946253.1:n.224G>A
XR_946253.2:n.314G>A