Canonical Allele Identifier: CA377838037

Gene: FGF8

Linked Data

• dbSNP Id: rs1390982549
• gnomAD v2: 10-103534908-C-A
• gnomAD v4: 10-101775151-C-A
• MyVariant Identifiers: chr10:g.103534908C>A (hg19) ; chr10:g.101775151C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101775151C>A , CM000672.2:g.101775151C>A	GRCh38
NC_000010.10:g.103534908C>A , CM000672.1:g.103534908C>A	GRCh37
NC_000010.9:g.103524898C>A	NCBI36
NG_007151.1:g.5920G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320185.7:c.135G>T MANE Select	ENSP00000321797.2:p.Glu45Asp
ENST00000618991.5:c.-123-272G>T	ENSP00000484420.1:n.-123-272G>T
ENST00000344255.8:c.135G>T	ENSP00000340039.3:p.Glu45Asp
ENST00000320185.6:c.135G>T	ENSP00000321797.2:p.Glu45Asp
ENST00000344255.7:c.135G>T	ENSP00000340039.3:p.Glu45Asp
ENST00000346714.7:c.70-272G>T	ENSP00000344306.3:n.70-272G>T
ENST00000347978.2:c.70-239G>T	ENSP00000321945.2:n.70-239G>T
ENST00000469792.6:c.*154-272G>T	ENSP00000473299.1:n.*154-272G>T
ENST00000485728.1:n.33-239G>T
ENST00000618991.4:c.-123-272G>T	ENSP00000484420.1:n.-123-272G>T
NM_001206389.1:c.-123-272G>T	NP_001193318.1:n.-123-272G>T
NM_006119.4:c.70-239G>T	NP_006110.1:n.70-239G>T
NM_033163.3:c.135G>T	NP_149353.1:p.Glu45Asp
NM_033164.3:c.135G>T	NP_149354.1:p.Glu45Asp
NM_033165.3:c.70-272G>T	NP_149355.1:n.70-272G>T
XM_011539509.1:c.79-239G>T	XP_011537811.1:n.79-239G>T
NM_006119.5:c.70-239G>T	NP_006110.1:n.70-239G>T
NM_033163.4:c.135G>T	NP_149353.1:p.Glu45Asp
NM_033164.4:c.135G>T	NP_149354.1:p.Glu45Asp
NM_033165.4:c.70-272G>T	NP_149355.1:n.70-272G>T
NM_001206389.2:c.-123-272G>T	NP_001193318.1:n.-123-272G>T
NM_006119.6:c.70-239G>T	NP_006110.1:n.70-239G>T
NM_033163.5:c.135G>T MANE Select	NP_149353.1:p.Glu45Asp
NM_033165.5:c.70-272G>T	NP_149355.1:n.70-272G>T