Canonical Allele Identifier: CA345439156

Gene: FH

Linked Data

• gnomAD v4: 1-241508611-G-C
• MyVariant Identifiers: chr1:g.241671911G>C (hg19) ; chr1:g.241508611G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508611G>C , CM000663.2:g.241508611G>C	GRCh38
NC_000001.10:g.241671911G>C , CM000663.1:g.241671911G>C	GRCh37
NC_000001.9:g.239738534G>C	NCBI36
NG_012338.1:g.16144C>G , LRG_504:g.16144C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1233C>G
ENST00000682162.1:c.759C>G	ENSP00000508203.1:n.759C>G
ENST00000682567.1:n.807C>G
ENST00000683521.1:c.730C>G	ENSP00000506864.1:p.Leu244Val
ENST00000684161.1:n.1945C>G
ENST00000684483.1:c.*126C>G	ENSP00000507894.1:n.*126C>G
ENST00000366560.4:c.730C>G MANE Select	ENSP00000355518.4:p.Leu244Val
ENST00000366560.3:c.730C>G	ENSP00000355518.3:p.Leu244Val
NM_000143.3:c.730C>G , LRG_504t1:c.730C>G	NP_000134.2:p.Leu244Val
XM_011544132.1:c.502C>G	XP_011542434.1:p.Leu168Val
XM_011544132.2:c.502C>G	XP_011542434.1:p.Leu168Val
NM_000143.4:c.730C>G MANE Select	NP_000134.2:p.Leu244Val