Canonical Allele Identifier: CA345439236

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241671952T>G (hg19) ; chr1:g.241508652T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508652T>G , CM000663.2:g.241508652T>G	GRCh38
NC_000001.10:g.241671952T>G , CM000663.1:g.241671952T>G	GRCh37
NC_000001.9:g.239738575T>G	NCBI36
NG_012338.1:g.16103A>C , LRG_504:g.16103A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1192A>C
ENST00000682162.1:c.718A>C	ENSP00000508203.1:n.718A>C
ENST00000682567.1:n.766A>C
ENST00000683521.1:c.689A>C	ENSP00000506864.1:p.Lys230Thr
ENST00000684161.1:n.1904A>C
ENST00000684483.1:c.*85A>C	ENSP00000507894.1:n.*85A>C
ENST00000366560.4:c.689A>C MANE Select	ENSP00000355518.4:p.Lys230Thr
ENST00000366560.3:c.689A>C	ENSP00000355518.3:p.Lys230Thr
NM_000143.3:c.689A>C , LRG_504t1:c.689A>C	NP_000134.2:p.Lys230Thr
XM_011544132.1:c.461A>C	XP_011542434.1:p.Lys154Thr
XM_011544132.2:c.461A>C	XP_011542434.1:p.Lys154Thr
NM_000143.4:c.689A>C MANE Select	NP_000134.2:p.Lys230Thr