Canonical Allele Identifier: CA470996108

Gene: FGF8

Linked Data

• dbSNP Id: rs1427501074
• gnomAD v3: 10-101771541-A-G
• gnomAD v4: 10-101771541-A-G
• MyVariant Identifiers: chr10:g.103531298A>G (hg19) ; chr10:g.101771541A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101771541A>G , CM000672.2:g.101771541A>G	GRCh38
NC_000010.10:g.103531298A>G , CM000672.1:g.103531298A>G	GRCh37
NC_000010.9:g.103521288A>G	NCBI36
NG_007151.1:g.9530T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320185.7:c.366T>C MANE Select	ENSP00000321797.2:p.Phe122=
ENST00000618991.5:c.54T>C	ENSP00000484420.1:p.Phe18=
ENST00000344255.8:c.333T>C	ENSP00000340039.3:p.Phe111=
ENST00000320185.6:c.366T>C	ENSP00000321797.2:p.Phe122=
ENST00000344255.7:c.333T>C	ENSP00000340039.3:p.Phe111=
ENST00000346714.7:c.246T>C	ENSP00000344306.3:p.Phe82=
ENST00000347978.2:c.279T>C	ENSP00000321945.2:p.Phe93=
ENST00000469792.6:c.*330T>C	ENSP00000473299.1:n.*330T>C
ENST00000485728.1:n.242T>C
ENST00000618991.4:c.54T>C	ENSP00000484420.1:p.Phe18=
NM_001206389.1:c.54T>C	NP_001193318.1:p.Phe18=
NM_006119.4:c.279T>C	NP_006110.1:p.Phe93=
NM_033163.3:c.366T>C	NP_149353.1:p.Phe122=
NM_033164.3:c.333T>C	NP_149354.1:p.Phe111=
NM_033165.3:c.246T>C	NP_149355.1:p.Phe82=
XM_011539509.1:c.288T>C	XP_011537811.1:p.Phe96=
XR_946251.1:n.322A>G
XR_946252.1:n.253A>G
XR_946253.1:n.251A>G
XR_946252.2:n.343A>G
XR_946253.2:n.341A>G
NM_006119.5:c.279T>C	NP_006110.1:p.Phe93=
NM_033163.4:c.366T>C	NP_149353.1:p.Phe122=
NM_033164.4:c.333T>C	NP_149354.1:p.Phe111=
NM_033165.4:c.246T>C	NP_149355.1:p.Phe82=
NM_001206389.2:c.54T>C	NP_001193318.1:p.Phe18=
NM_006119.6:c.279T>C	NP_006110.1:p.Phe93=
NM_033163.5:c.366T>C MANE Select	NP_149353.1:p.Phe122=
NM_033165.5:c.246T>C	NP_149355.1:p.Phe82=