Canonical Allele Identifier: CA345437388

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241665790C>G (hg19) ; chr1:g.241502490C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502490C>G , CM000663.2:g.241502490C>G	GRCh38
NC_000001.10:g.241665790C>G , CM000663.1:g.241665790C>G	GRCh37
NC_000001.9:g.239732413C>G	NCBI36
NG_012338.1:g.22265G>C , LRG_504:g.22265G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1692G>C
ENST00000682162.1:c.1218G>C	ENSP00000508203.1:n.1218G>C
ENST00000682567.1:n.2737G>C
ENST00000683521.1:c.1189G>C	ENSP00000506864.1:p.Gly397Arg
ENST00000684161.1:n.2404G>C
ENST00000684483.1:c.*585G>C	ENSP00000507894.1:n.*585G>C
ENST00000366560.4:c.1189G>C MANE Select	ENSP00000355518.4:p.Gly397Arg
ENST00000366560.3:c.1189G>C	ENSP00000355518.3:p.Gly397Arg
NM_000143.3:c.1189G>C , LRG_504t1:c.1189G>C	NP_000134.2:p.Gly397Arg
XM_011544132.1:c.961G>C	XP_011542434.1:p.Gly321Arg
XM_011544132.2:c.961G>C	XP_011542434.1:p.Gly321Arg
NM_000143.4:c.1189G>C MANE Select	NP_000134.2:p.Gly397Arg