Canonical Allele Identifier: CA377834280

Gene: FGF8

Linked Data

• dbSNP Id: rs2065025031
• gnomAD v4: 10-101771480-C-T
• MyVariant Identifiers: chr10:g.103531237C>T (hg19) ; chr10:g.101771480C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101771480C>T , CM000672.2:g.101771480C>T	GRCh38
NC_000010.10:g.103531237C>T , CM000672.1:g.103531237C>T	GRCh37
NC_000010.9:g.103521227C>T	NCBI36
NG_007151.1:g.9591G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320185.7:c.427G>A MANE Select	ENSP00000321797.2:p.Gly143Arg
ENST00000618991.5:c.115G>A	ENSP00000484420.1:p.Gly39Arg
ENST00000344255.8:c.394G>A	ENSP00000340039.3:p.Gly132Arg
ENST00000320185.6:c.427G>A	ENSP00000321797.2:p.Gly143Arg
ENST00000344255.7:c.394G>A	ENSP00000340039.3:p.Gly132Arg
ENST00000346714.7:c.307G>A	ENSP00000344306.3:p.Gly103Arg
ENST00000347978.2:c.340G>A	ENSP00000321945.2:p.Gly114Arg
ENST00000469792.6:c.*391G>A	ENSP00000473299.1:n.*391G>A
ENST00000485728.1:n.303G>A
ENST00000618991.4:c.115G>A	ENSP00000484420.1:p.Gly39Arg
NM_001206389.1:c.115G>A	NP_001193318.1:p.Gly39Arg
NM_006119.4:c.340G>A	NP_006110.1:p.Gly114Arg
NM_033163.3:c.427G>A	NP_149353.1:p.Gly143Arg
NM_033164.3:c.394G>A	NP_149354.1:p.Gly132Arg
NM_033165.3:c.307G>A	NP_149355.1:p.Gly103Arg
XM_011539509.1:c.349G>A	XP_011537811.1:p.Gly117Arg
XR_946251.1:n.278-17C>T
XR_946252.1:n.209-17C>T
XR_946253.1:n.207-17C>T
XR_946252.2:n.299-17C>T
XR_946253.2:n.297-17C>T
NM_006119.5:c.340G>A	NP_006110.1:p.Gly114Arg
NM_033163.4:c.427G>A	NP_149353.1:p.Gly143Arg
NM_033164.4:c.394G>A	NP_149354.1:p.Gly132Arg
NM_033165.4:c.307G>A	NP_149355.1:p.Gly103Arg
NM_001206389.2:c.115G>A	NP_001193318.1:p.Gly39Arg
NM_006119.6:c.340G>A	NP_006110.1:p.Gly114Arg
NM_033163.5:c.427G>A MANE Select	NP_149353.1:p.Gly143Arg
NM_033165.5:c.307G>A	NP_149355.1:p.Gly103Arg