Canonical Allele Identifier: CA345437694

Gene: FH

Linked Data

• COSMIC: COSM5607398
• MyVariant Identifiers: chr1:g.241665866C>A (hg19) ; chr1:g.241502566C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502566C>A , CM000663.2:g.241502566C>A	GRCh38
NC_000001.10:g.241665866C>A , CM000663.1:g.241665866C>A	GRCh37
NC_000001.9:g.239732489C>A	NCBI36
NG_012338.1:g.22189G>T , LRG_504:g.22189G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1616G>T
ENST00000682162.1:c.1142G>T	ENSP00000508203.1:n.1142G>T
ENST00000682567.1:n.2661G>T
ENST00000683521.1:c.1113G>T	ENSP00000506864.1:p.Lys371Asn
ENST00000684161.1:n.2328G>T
ENST00000684483.1:c.*509G>T	ENSP00000507894.1:n.*509G>T
ENST00000366560.4:c.1113G>T MANE Select	ENSP00000355518.4:p.Lys371Asn
ENST00000366560.3:c.1113G>T	ENSP00000355518.3:p.Lys371Asn
NM_000143.3:c.1113G>T , LRG_504t1:c.1113G>T	NP_000134.2:p.Lys371Asn
XM_011544132.1:c.885G>T	XP_011542434.1:p.Lys295Asn
XM_011544132.2:c.885G>T	XP_011542434.1:p.Lys295Asn
NM_000143.4:c.1113G>T MANE Select	NP_000134.2:p.Lys371Asn