Canonical Allele Identifier: CA212182968

Gene: FGF8

Linked Data

• dbSNP Id: rs763690807
• gnomAD v4: 10-101774816-G-A
• MyVariant Identifiers: chr10:g.103534573G>A (hg19) ; chr10:g.101774816G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101774816G>A , CM000672.2:g.101774816G>A	GRCh38
NC_000010.10:g.103534573G>A , CM000672.1:g.103534573G>A	GRCh37
NC_000010.9:g.103524563G>A	NCBI36
NG_007151.1:g.6255C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320185.7:c.253C>T MANE Select	ENSP00000321797.2:p.Leu85Phe
ENST00000618991.5:c.-60C>T	ENSP00000484420.1:n.-60C>T
ENST00000344255.8:c.220C>T	ENSP00000340039.3:p.Leu74Phe
ENST00000320185.6:c.253C>T	ENSP00000321797.2:p.Leu85Phe
ENST00000344255.7:c.220C>T	ENSP00000340039.3:p.Leu74Phe
ENST00000346714.7:c.133C>T	ENSP00000344306.3:p.Leu45Phe
ENST00000347978.2:c.166C>T	ENSP00000321945.2:p.Leu56Phe
ENST00000469792.6:c.*217C>T	ENSP00000473299.1:n.*217C>T
ENST00000485728.1:n.129C>T
ENST00000618991.4:c.-60C>T	ENSP00000484420.1:n.-60C>T
NM_001206389.1:c.-60C>T	NP_001193318.1:n.-60C>T
NM_006119.4:c.166C>T	NP_006110.1:p.Leu56Phe
NM_033163.3:c.253C>T	NP_149353.1:p.Leu85Phe
NM_033164.3:c.220C>T	NP_149354.1:p.Leu74Phe
NM_033165.3:c.133C>T	NP_149355.1:p.Leu45Phe
XM_011539509.1:c.175C>T	XP_011537811.1:p.Leu59Phe
NM_006119.5:c.166C>T	NP_006110.1:p.Leu56Phe
NM_033163.4:c.253C>T	NP_149353.1:p.Leu85Phe
NM_033164.4:c.220C>T	NP_149354.1:p.Leu74Phe
NM_033165.4:c.133C>T	NP_149355.1:p.Leu45Phe
NM_001206389.2:c.-60C>T	NP_001193318.1:n.-60C>T
NM_006119.6:c.166C>T	NP_006110.1:p.Leu56Phe
NM_033163.5:c.253C>T MANE Select	NP_149353.1:p.Leu85Phe
NM_033165.5:c.133C>T	NP_149355.1:p.Leu45Phe