Canonical Allele Identifier: CA345437548

Gene: FH

Linked Data

• dbSNP Id: rs2147914999
• gnomAD v4: 1-241502543-G-A
• MyVariant Identifiers: chr1:g.241665843G>A (hg19) ; chr1:g.241502543G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502543G>A , CM000663.2:g.241502543G>A	GRCh38
NC_000001.10:g.241665843G>A , CM000663.1:g.241665843G>A	GRCh37
NC_000001.9:g.239732466G>A	NCBI36
NG_012338.1:g.22212C>T , LRG_504:g.22212C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1639C>T
ENST00000682162.1:c.1165C>T	ENSP00000508203.1:n.1165C>T
ENST00000682567.1:n.2684C>T
ENST00000683521.1:c.1136C>T	ENSP00000506864.1:p.Ala379Val
ENST00000684161.1:n.2351C>T
ENST00000684483.1:c.*532C>T	ENSP00000507894.1:n.*532C>T
ENST00000366560.4:c.1136C>T MANE Select	ENSP00000355518.4:p.Ala379Val
ENST00000366560.3:c.1136C>T	ENSP00000355518.3:p.Ala379Val
NM_000143.3:c.1136C>T , LRG_504t1:c.1136C>T	NP_000134.2:p.Ala379Val
XM_011544132.1:c.908C>T	XP_011542434.1:p.Ala303Val
XM_011544132.2:c.908C>T	XP_011542434.1:p.Ala303Val
NM_000143.4:c.1136C>T MANE Select	NP_000134.2:p.Ala379Val