Canonical Allele Identifier: CA345436467

Gene: FH

Linked Data

• dbSNP Id: rs376502356
• MyVariant Identifiers: chr1:g.241663780C>A (hg19) ; chr1:g.241500480C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241500480C>A , CM000663.2:g.241500480C>A	GRCh38
NC_000001.10:g.241663780C>A , CM000663.1:g.241663780C>A	GRCh37
NC_000001.9:g.239730403C>A	NCBI36
NG_012338.1:g.24275G>T , LRG_504:g.24275G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1850G>T
ENST00000682162.1:c.1376G>T	ENSP00000508203.1:n.1376G>T
ENST00000682567.1:n.4747G>T
ENST00000683521.1:c.1347G>T	ENSP00000506864.1:p.Met449Ile
ENST00000684161.1:n.2562G>T
ENST00000684483.1:c.*743G>T	ENSP00000507894.1:n.*743G>T
ENST00000366560.4:c.1347G>T MANE Select	ENSP00000355518.4:p.Met449Ile
ENST00000366560.3:c.1347G>T	ENSP00000355518.3:p.Met449Ile
NM_000143.3:c.1347G>T , LRG_504t1:c.1347G>T	NP_000134.2:p.Met449Ile
XM_011544132.1:c.1119G>T	XP_011542434.1:p.Met373Ile
XM_011544132.2:c.1119G>T	XP_011542434.1:p.Met373Ile
NM_000143.4:c.1347G>T MANE Select	NP_000134.2:p.Met449Ile