Canonical Allele Identifier: CA254662

Gene: FGF8

Linked Data

• ClinVar Variation Id: 9126
• ClinVar RCV Id: RCV000009697 ; RCV000988442 ; RCV001531080
• dbSNP Id: rs137852664
• ExAC: 10:103530135 G / A
• gnomAD v2: 10-103530135-G-A
• gnomAD v3: 10-101770378-G-A
• gnomAD v4: 10-101770378-G-A
• COSMIC: COSM1345400
• MyVariant Identifiers: chr10:g.103530135G>A (hg19) ; chr10:g.101770378G>A (hg38)
• PubMed: PMID:18596921 ; PMID:21045958

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101770378G>A , CM000672.2:g.101770378G>A	GRCh38
NC_000010.10:g.103530135G>A , CM000672.1:g.103530135G>A	GRCh37
NC_000010.9:g.103520125G>A	NCBI36
NG_007151.1:g.10693C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320185.7:c.686C>T MANE Select	ENSP00000321797.2:p.Thr229Met
ENST00000618991.5:c.374C>T	ENSP00000484420.1:p.Thr125Met
ENST00000344255.8:c.653C>T	ENSP00000340039.3:p.Thr218Met
ENST00000320185.6:c.686C>T	ENSP00000321797.2:p.Thr229Met
ENST00000344255.7:c.653C>T	ENSP00000340039.3:p.Thr218Met
ENST00000346714.7:c.566C>T	ENSP00000344306.3:p.Thr189Met
ENST00000347978.2:c.599C>T	ENSP00000321945.2:p.Thr200Met
ENST00000469792.6:c.*650C>T	ENSP00000473299.1:n.*650C>T
ENST00000485728.1:n.562C>T
ENST00000618991.4:c.374C>T	ENSP00000484420.1:p.Thr125Met
NM_001206389.1:c.374C>T	NP_001193318.1:p.Thr125Met
NM_006119.4:c.599C>T	NP_006110.1:p.Thr200Met
NM_033163.3:c.686C>T	NP_149353.1:p.Thr229Met
NM_033164.3:c.653C>T	NP_149354.1:p.Thr218Met
NM_033165.3:c.566C>T	NP_149355.1:p.Thr189Met
XM_011539509.1:c.608C>T	XP_011537811.1:p.Thr203Met
XR_946251.1:n.138-179G>A
XR_946252.1:n.138-248G>A
XR_946253.1:n.138-179G>A
XR_946252.2:n.228-248G>A
XR_946253.2:n.228-179G>A
NM_006119.5:c.599C>T	NP_006110.1:p.Thr200Met
NM_033163.4:c.686C>T	NP_149353.1:p.Thr229Met
NM_033164.4:c.653C>T	NP_149354.1:p.Thr218Met
NM_033165.4:c.566C>T	NP_149355.1:p.Thr189Met
NM_001206389.2:c.374C>T	NP_001193318.1:p.Thr125Met
NM_006119.6:c.599C>T	NP_006110.1:p.Thr200Met
NM_033163.5:c.686C>T MANE Select	NP_149353.1:p.Thr229Met
NM_033165.5:c.566C>T	NP_149355.1:p.Thr189Met