Canonical Allele Identifier: CA5657619

Gene: FGF8

Linked Data

• dbSNP Id: rs749382906
• ExAC: 10:103531288 C / T
• gnomAD v2: 10-103531288-C-T
• gnomAD v4: 10-101771531-C-T
• MyVariant Identifiers: chr10:g.103531288C>T (hg19) ; chr10:g.101771531C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101771531C>T , CM000672.2:g.101771531C>T	GRCh38
NC_000010.10:g.103531288C>T , CM000672.1:g.103531288C>T	GRCh37
NC_000010.9:g.103521278C>T	NCBI36
NG_007151.1:g.9540G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000320185.7:c.376G>A MANE Select	ENSP00000321797.2:p.Val126Ile
ENST00000618991.5:c.64G>A	ENSP00000484420.1:p.Val22Ile
ENST00000344255.8:c.343G>A	ENSP00000340039.3:p.Val115Ile
ENST00000320185.6:c.376G>A	ENSP00000321797.2:p.Val126Ile
ENST00000344255.7:c.343G>A	ENSP00000340039.3:p.Val115Ile
ENST00000346714.7:c.256G>A	ENSP00000344306.3:p.Val86Ile
ENST00000347978.2:c.289G>A	ENSP00000321945.2:p.Val97Ile
ENST00000469792.6:c.*340G>A	ENSP00000473299.1:n.*340G>A
ENST00000485728.1:n.252G>A
ENST00000618991.4:c.64G>A	ENSP00000484420.1:p.Val22Ile
NM_001206389.1:c.64G>A	NP_001193318.1:p.Val22Ile
NM_006119.4:c.289G>A	NP_006110.1:p.Val97Ile
NM_033163.3:c.376G>A	NP_149353.1:p.Val126Ile
NM_033164.3:c.343G>A	NP_149354.1:p.Val115Ile
NM_033165.3:c.256G>A	NP_149355.1:p.Val86Ile
XM_011539509.1:c.298G>A	XP_011537811.1:p.Val100Ile
XR_946251.1:n.312C>T
XR_946252.1:n.243C>T
XR_946253.1:n.241C>T
XR_946252.2:n.333C>T
XR_946253.2:n.331C>T
NM_006119.5:c.289G>A	NP_006110.1:p.Val97Ile
NM_033163.4:c.376G>A	NP_149353.1:p.Val126Ile
NM_033164.4:c.343G>A	NP_149354.1:p.Val115Ile
NM_033165.4:c.256G>A	NP_149355.1:p.Val86Ile
NM_001206389.2:c.64G>A	NP_001193318.1:p.Val22Ile
NM_006119.6:c.289G>A	NP_006110.1:p.Val97Ile
NM_033163.5:c.376G>A MANE Select	NP_149353.1:p.Val126Ile
NM_033165.5:c.256G>A	NP_149355.1:p.Val86Ile