Canonical Allele Identifier: CA5657622

Gene: FGF8

Linked Data

• dbSNP Id: rs367853216
• ExAC: 10:103531316 G / A
• gnomAD v2: 10-103531316-G-A
• gnomAD v3: 10-101771559-G-A
• gnomAD v4: 10-101771559-G-A
• MyVariant Identifiers: chr10:g.103531316G>A (hg19) ; chr10:g.101771559G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101771559G>A , CM000672.2:g.101771559G>A	GRCh38
NC_000010.10:g.103531316G>A , CM000672.1:g.103531316G>A	GRCh37
NC_000010.9:g.103521306G>A	NCBI36
NG_007151.1:g.9512C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320185.7:c.348C>T MANE Select	ENSP00000321797.2:p.Ile116=
ENST00000618991.5:c.36C>T	ENSP00000484420.1:p.Ile12=
ENST00000344255.8:c.315C>T	ENSP00000340039.3:p.Ile105=
ENST00000320185.6:c.348C>T	ENSP00000321797.2:p.Ile116=
ENST00000344255.7:c.315C>T	ENSP00000340039.3:p.Ile105=
ENST00000346714.7:c.228C>T	ENSP00000344306.3:p.Ile76=
ENST00000347978.2:c.261C>T	ENSP00000321945.2:p.Ile87=
ENST00000469792.6:c.*312C>T	ENSP00000473299.1:n.*312C>T
ENST00000485728.1:n.224C>T
ENST00000618991.4:c.36C>T	ENSP00000484420.1:p.Ile12=
NM_001206389.1:c.36C>T	NP_001193318.1:p.Ile12=
NM_006119.4:c.261C>T	NP_006110.1:p.Ile87=
NM_033163.3:c.348C>T	NP_149353.1:p.Ile116=
NM_033164.3:c.315C>T	NP_149354.1:p.Ile105=
NM_033165.3:c.228C>T	NP_149355.1:p.Ile76=
XM_011539509.1:c.270C>T	XP_011537811.1:p.Ile90=
XR_946251.1:n.340G>A
XR_946252.1:n.271G>A
XR_946253.1:n.269G>A
XR_946252.2:n.361G>A
XR_946253.2:n.359G>A
NM_006119.5:c.261C>T	NP_006110.1:p.Ile87=
NM_033163.4:c.348C>T	NP_149353.1:p.Ile116=
NM_033164.4:c.315C>T	NP_149354.1:p.Ile105=
NM_033165.4:c.228C>T	NP_149355.1:p.Ile76=
NM_001206389.2:c.36C>T	NP_001193318.1:p.Ile12=
NM_006119.6:c.261C>T	NP_006110.1:p.Ile87=
NM_033163.5:c.348C>T MANE Select	NP_149353.1:p.Ile116=
NM_033165.5:c.228C>T	NP_149355.1:p.Ile76=