Canonical Allele Identifier: CA5657618

Gene: FGF8

Linked Data

• dbSNP Id: rs779901890
• ExAC: 10:103531284 C / T
• gnomAD v2: 10-103531284-C-T
• gnomAD v4: 10-101771527-C-T
• COSMIC: COSM2058603
• MyVariant Identifiers: chr10:g.103531284C>T (hg19) ; chr10:g.101771527C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101771527C>T , CM000672.2:g.101771527C>T	GRCh38
NC_000010.10:g.103531284C>T , CM000672.1:g.103531284C>T	GRCh37
NC_000010.9:g.103521274C>T	NCBI36
NG_007151.1:g.9544G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320185.7:c.380G>A MANE Select	ENSP00000321797.2:p.Arg127Gln
ENST00000618991.5:c.68G>A	ENSP00000484420.1:p.Arg23Gln
ENST00000344255.8:c.347G>A	ENSP00000340039.3:p.Arg116Gln
ENST00000320185.6:c.380G>A	ENSP00000321797.2:p.Arg127Gln
ENST00000344255.7:c.347G>A	ENSP00000340039.3:p.Arg116Gln
ENST00000346714.7:c.260G>A	ENSP00000344306.3:p.Arg87Gln
ENST00000347978.2:c.293G>A	ENSP00000321945.2:p.Arg98Gln
ENST00000469792.6:c.*344G>A	ENSP00000473299.1:n.*344G>A
ENST00000485728.1:n.256G>A
ENST00000618991.4:c.68G>A	ENSP00000484420.1:p.Arg23Gln
NM_001206389.1:c.68G>A	NP_001193318.1:p.Arg23Gln
NM_006119.4:c.293G>A	NP_006110.1:p.Arg98Gln
NM_033163.3:c.380G>A	NP_149353.1:p.Arg127Gln
NM_033164.3:c.347G>A	NP_149354.1:p.Arg116Gln
NM_033165.3:c.260G>A	NP_149355.1:p.Arg87Gln
XM_011539509.1:c.302G>A	XP_011537811.1:p.Arg101Gln
XR_946251.1:n.308C>T
XR_946252.1:n.239C>T
XR_946253.1:n.237C>T
XR_946252.2:n.329C>T
XR_946253.2:n.327C>T
NM_006119.5:c.293G>A	NP_006110.1:p.Arg98Gln
NM_033163.4:c.380G>A	NP_149353.1:p.Arg127Gln
NM_033164.4:c.347G>A	NP_149354.1:p.Arg116Gln
NM_033165.4:c.260G>A	NP_149355.1:p.Arg87Gln
NM_001206389.2:c.68G>A	NP_001193318.1:p.Arg23Gln
NM_006119.6:c.293G>A	NP_006110.1:p.Arg98Gln
NM_033163.5:c.380G>A MANE Select	NP_149353.1:p.Arg127Gln
NM_033165.5:c.260G>A	NP_149355.1:p.Arg87Gln