Canonical Allele Identifier: CA5657687

Gene: FGF8

Linked Data

• ClinVar Variation Id: 1402616
• ClinVar RCV Id: RCV001906516 ; RCV003994353
• dbSNP Id: rs544494562
• ExAC: 10:103534951 G / T
• gnomAD v2: 10-103534951-G-T
• gnomAD v3: 10-101775194-G-T
• gnomAD v4: 10-101775194-G-T
• MyVariant Identifiers: chr10:g.103534951G>T (hg19) ; chr10:g.101775194G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101775194G>T , CM000672.2:g.101775194G>T	GRCh38
NC_000010.10:g.103534951G>T , CM000672.1:g.103534951G>T	GRCh37
NC_000010.9:g.103524941G>T	NCBI36
NG_007151.1:g.5877C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320185.7:c.92C>A MANE Select	ENSP00000321797.2:p.Ala31Glu
ENST00000618991.5:c.-123-315C>A	ENSP00000484420.1:n.-123-315C>A
ENST00000344255.8:c.92C>A	ENSP00000340039.3:p.Ala31Glu
ENST00000320185.6:c.92C>A	ENSP00000321797.2:p.Ala31Glu
ENST00000344255.7:c.92C>A	ENSP00000340039.3:p.Ala31Glu
ENST00000346714.7:c.70-315C>A	ENSP00000344306.3:n.70-315C>A
ENST00000347978.2:c.70-282C>A	ENSP00000321945.2:n.70-282C>A
ENST00000469792.6:c.*154-315C>A	ENSP00000473299.1:n.*154-315C>A
ENST00000485728.1:n.33-282C>A
ENST00000618991.4:c.-123-315C>A	ENSP00000484420.1:n.-123-315C>A
NM_001206389.1:c.-123-315C>A	NP_001193318.1:n.-123-315C>A
NM_006119.4:c.70-282C>A	NP_006110.1:n.70-282C>A
NM_033163.3:c.92C>A	NP_149353.1:p.Ala31Glu
NM_033164.3:c.92C>A	NP_149354.1:p.Ala31Glu
NM_033165.3:c.70-315C>A	NP_149355.1:n.70-315C>A
XM_011539509.1:c.79-282C>A	XP_011537811.1:n.79-282C>A
NM_006119.5:c.70-282C>A	NP_006110.1:n.70-282C>A
NM_033163.4:c.92C>A	NP_149353.1:p.Ala31Glu
NM_033164.4:c.92C>A	NP_149354.1:p.Ala31Glu
NM_033165.4:c.70-315C>A	NP_149355.1:n.70-315C>A
NM_001206389.2:c.-123-315C>A	NP_001193318.1:n.-123-315C>A
NM_006119.6:c.70-282C>A	NP_006110.1:n.70-282C>A
NM_033163.5:c.92C>A MANE Select	NP_149353.1:p.Ala31Glu
NM_033165.5:c.70-315C>A	NP_149355.1:n.70-315C>A