Canonical Allele Identifier: CA377837212

Gene: FGF8

Linked Data

• dbSNP Id: rs2065068821
• gnomAD v4: 10-101774865-C-G
• MyVariant Identifiers: chr10:g.103534622C>G (hg19) ; chr10:g.101774865C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101774865C>G , CM000672.2:g.101774865C>G	GRCh38
NC_000010.10:g.103534622C>G , CM000672.1:g.103534622C>G	GRCh37
NC_000010.9:g.103524612C>G	NCBI36
NG_007151.1:g.6206G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320185.7:c.204G>C MANE Select	ENSP00000321797.2:p.Gln68His
ENST00000618991.5:c.-109G>C	ENSP00000484420.1:n.-109G>C
ENST00000344255.8:c.171G>C	ENSP00000340039.3:p.Gln57His
ENST00000320185.6:c.204G>C	ENSP00000321797.2:p.Gln68His
ENST00000344255.7:c.171G>C	ENSP00000340039.3:p.Gln57His
ENST00000346714.7:c.84G>C	ENSP00000344306.3:p.Gln28His
ENST00000347978.2:c.117G>C	ENSP00000321945.2:p.Gln39His
ENST00000469792.6:c.*168G>C	ENSP00000473299.1:n.*168G>C
ENST00000485728.1:n.80G>C
ENST00000618991.4:c.-109G>C	ENSP00000484420.1:n.-109G>C
NM_001206389.1:c.-109G>C	NP_001193318.1:n.-109G>C
NM_006119.4:c.117G>C	NP_006110.1:p.Gln39His
NM_033163.3:c.204G>C	NP_149353.1:p.Gln68His
NM_033164.3:c.171G>C	NP_149354.1:p.Gln57His
NM_033165.3:c.84G>C	NP_149355.1:p.Gln28His
XM_011539509.1:c.126G>C	XP_011537811.1:p.Gln42His
NM_006119.5:c.117G>C	NP_006110.1:p.Gln39His
NM_033163.4:c.204G>C	NP_149353.1:p.Gln68His
NM_033164.4:c.171G>C	NP_149354.1:p.Gln57His
NM_033165.4:c.84G>C	NP_149355.1:p.Gln28His
NM_001206389.2:c.-109G>C	NP_001193318.1:n.-109G>C
NM_006119.6:c.117G>C	NP_006110.1:p.Gln39His
NM_033163.5:c.204G>C MANE Select	NP_149353.1:p.Gln68His
NM_033165.5:c.84G>C	NP_149355.1:p.Gln28His