Canonical Allele Identifier: CA5657528

Gene: FGF8

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101770367G>A , CM000672.2:g.101770367G>A	GRCh38
NC_000010.10:g.103530124G>A , CM000672.1:g.103530124G>A	GRCh37
NC_000010.9:g.103520114G>A	NCBI36
NG_007151.1:g.10704C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_033163.5:c.697C>T MANE Select	NP_149353.1:p.Arg233Cys
ENST00000320185.7:c.697C>T MANE Select	ENSP00000321797.2:p.Arg233Cys
NM_001206389.1:c.385C>T	NP_001193318.1:p.Arg129Cys
NM_001206389.2:c.385C>T	NP_001193318.1:p.Arg129Cys
NM_006119.4:c.610C>T	NP_006110.1:p.Arg204Cys
NM_006119.5:c.610C>T	NP_006110.1:p.Arg204Cys
NM_006119.6:c.610C>T	NP_006110.1:p.Arg204Cys
NM_033163.3:c.697C>T	NP_149353.1:p.Arg233Cys
NM_033163.4:c.697C>T	NP_149353.1:p.Arg233Cys
NM_033164.3:c.664C>T	NP_149354.1:p.Arg222Cys
NM_033164.4:c.664C>T	NP_149354.1:p.Arg222Cys
NM_033165.3:c.577C>T	NP_149355.1:p.Arg193Cys
NM_033165.4:c.577C>T	NP_149355.1:p.Arg193Cys
NM_033165.5:c.577C>T	NP_149355.1:p.Arg193Cys
ENST00000320185.6:c.697C>T	ENSP00000321797.2:p.Arg233Cys
ENST00000344255.7:c.664C>T	ENSP00000340039.3:p.Arg222Cys
ENST00000344255.8:c.664C>T	ENSP00000340039.3:p.Arg222Cys
ENST00000346714.7:c.577C>T	ENSP00000344306.3:p.Arg193Cys
ENST00000347978.2:c.610C>T	ENSP00000321945.2:p.Arg204Cys
ENST00000469792.6:c.*661C>T	ENSP00000473299.1:n.*661C>T
ENST00000485728.1:n.573C>T
ENST00000618991.4:c.385C>T	ENSP00000484420.1:p.Arg129Cys
ENST00000618991.5:c.385C>T	ENSP00000484420.1:p.Arg129Cys
XM_011539509.1:c.619C>T	XP_011537811.1:p.Arg207Cys
XR_946251.1:n.138-190G>A
XR_946252.1:n.138-259G>A
XR_946252.2:n.228-259G>A
XR_946253.1:n.138-190G>A
XR_946253.2:n.228-190G>A