Canonical Allele Identifier: CA345439335

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241672000A>G (hg19) ; chr1:g.241508700A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508700A>G , CM000663.2:g.241508700A>G	GRCh38
NC_000001.10:g.241672000A>G , CM000663.1:g.241672000A>G	GRCh37
NC_000001.9:g.239738623A>G	NCBI36
NG_012338.1:g.16055T>C , LRG_504:g.16055T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1144T>C
ENST00000682162.1:c.670T>C	ENSP00000508203.1:n.670T>C
ENST00000682567.1:n.718T>C
ENST00000683521.1:c.641T>C	ENSP00000506864.1:p.Leu214Ser
ENST00000684161.1:n.1856T>C
ENST00000684483.1:c.*37T>C	ENSP00000507894.1:n.*37T>C
ENST00000366560.4:c.641T>C MANE Select	ENSP00000355518.4:p.Leu214Ser
ENST00000366560.3:c.641T>C	ENSP00000355518.3:p.Leu214Ser
NM_000143.3:c.641T>C , LRG_504t1:c.641T>C	NP_000134.2:p.Leu214Ser
XM_011544132.1:c.413T>C	XP_011542434.1:p.Leu138Ser
XM_011544132.2:c.413T>C	XP_011542434.1:p.Leu138Ser
NM_000143.4:c.641T>C MANE Select	NP_000134.2:p.Leu214Ser