Canonical Allele Identifier: CA212180674

Gene: FGF8

Linked Data

• dbSNP Id: rs904069647
• gnomAD v2: 10-103531225-C-T
• gnomAD v3: 10-101771468-C-T
• gnomAD v4: 10-101771468-C-T
• MyVariant Identifiers: chr10:g.103531225C>T (hg19) ; chr10:g.101771468C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101771468C>T , CM000672.2:g.101771468C>T	GRCh38
NC_000010.10:g.103531225C>T , CM000672.1:g.103531225C>T	GRCh37
NC_000010.9:g.103521215C>T	NCBI36
NG_007151.1:g.9603G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320185.7:c.439G>A MANE Select	ENSP00000321797.2:p.Ala147Thr
ENST00000618991.5:c.127G>A	ENSP00000484420.1:p.Ala43Thr
ENST00000344255.8:c.406G>A	ENSP00000340039.3:p.Ala136Thr
ENST00000320185.6:c.439G>A	ENSP00000321797.2:p.Ala147Thr
ENST00000344255.7:c.406G>A	ENSP00000340039.3:p.Ala136Thr
ENST00000346714.7:c.319G>A	ENSP00000344306.3:p.Ala107Thr
ENST00000347978.2:c.352G>A	ENSP00000321945.2:p.Ala118Thr
ENST00000469792.6:c.*403G>A	ENSP00000473299.1:n.*403G>A
ENST00000485728.1:n.315G>A
ENST00000618991.4:c.127G>A	ENSP00000484420.1:p.Ala43Thr
NM_001206389.1:c.127G>A	NP_001193318.1:p.Ala43Thr
NM_006119.4:c.352G>A	NP_006110.1:p.Ala118Thr
NM_033163.3:c.439G>A	NP_149353.1:p.Ala147Thr
NM_033164.3:c.406G>A	NP_149354.1:p.Ala136Thr
NM_033165.3:c.319G>A	NP_149355.1:p.Ala107Thr
XM_011539509.1:c.361G>A	XP_011537811.1:p.Ala121Thr
XR_946251.1:n.278-29C>T
XR_946252.1:n.209-29C>T
XR_946253.1:n.207-29C>T
XR_946252.2:n.299-29C>T
XR_946253.2:n.297-29C>T
NM_006119.5:c.352G>A	NP_006110.1:p.Ala118Thr
NM_033163.4:c.439G>A	NP_149353.1:p.Ala147Thr
NM_033164.4:c.406G>A	NP_149354.1:p.Ala136Thr
NM_033165.4:c.319G>A	NP_149355.1:p.Ala107Thr
NM_001206389.2:c.127G>A	NP_001193318.1:p.Ala43Thr
NM_006119.6:c.352G>A	NP_006110.1:p.Ala118Thr
NM_033163.5:c.439G>A MANE Select	NP_149353.1:p.Ala147Thr
NM_033165.5:c.319G>A	NP_149355.1:p.Ala107Thr