Canonical Allele Identifier: CA345437880

Gene: FH

Linked Data

• ClinVar Variation Id: 2203012
• ClinVar RCV Id: RCV003341526 ; RCV002664225
• MyVariant Identifiers: chr1:g.241667345G>A (hg19) ; chr1:g.241504045G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504045G>A , CM000663.2:g.241504045G>A	GRCh38
NC_000001.10:g.241667345G>A , CM000663.1:g.241667345G>A	GRCh37
NC_000001.9:g.239733968G>A	NCBI36
NG_012338.1:g.20710C>T , LRG_504:g.20710C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1608C>T
ENST00000682162.1:c.1134C>T	ENSP00000508203.1:n.1134C>T
ENST00000682567.1:n.1182C>T
ENST00000683521.1:c.1105C>T	ENSP00000506864.1:p.Pro369Ser
ENST00000684161.1:n.2320C>T
ENST00000684483.1:c.*501C>T	ENSP00000507894.1:n.*501C>T
ENST00000366560.4:c.1105C>T MANE Select	ENSP00000355518.4:p.Pro369Ser
ENST00000366560.3:c.1105C>T	ENSP00000355518.3:p.Pro369Ser
NM_000143.3:c.1105C>T , LRG_504t1:c.1105C>T	NP_000134.2:p.Pro369Ser
XM_011544132.1:c.877C>T	XP_011542434.1:p.Pro293Ser
XM_011544132.2:c.877C>T	XP_011542434.1:p.Pro293Ser
NM_000143.4:c.1105C>T MANE Select	NP_000134.2:p.Pro369Ser