Canonical Allele Identifier: CA345438281

Gene: FH

Linked Data

• ClinVar Variation Id: 2771211
• ClinVar RCV Id: RCV003581023
• MyVariant Identifiers: chr1:g.241667465T>G (hg19) ; chr1:g.241504165T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241504165T>G , CM000663.2:g.241504165T>G	GRCh38
NC_000001.10:g.241667465T>G , CM000663.1:g.241667465T>G	GRCh37
NC_000001.9:g.239734088T>G	NCBI36
NG_012338.1:g.20590A>C , LRG_504:g.20590A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1488A>C
ENST00000682162.1:c.1014A>C	ENSP00000508203.1:n.1014A>C
ENST00000682567.1:n.1062A>C
ENST00000683521.1:c.985A>C	ENSP00000506864.1:p.Asn329His
ENST00000684161.1:n.2200A>C
ENST00000684483.1:c.*381A>C	ENSP00000507894.1:n.*381A>C
ENST00000366560.4:c.985A>C MANE Select	ENSP00000355518.4:p.Asn329His
ENST00000366560.3:c.985A>C	ENSP00000355518.3:p.Asn329His
NM_000143.3:c.985A>C , LRG_504t1:c.985A>C	NP_000134.2:p.Asn329His
XM_011544132.1:c.757A>C	XP_011542434.1:p.Asn253His
XM_011544132.2:c.757A>C	XP_011542434.1:p.Asn253His
NM_000143.4:c.985A>C MANE Select	NP_000134.2:p.Asn329His