Canonical Allele Identifier: CA345439915

Gene: FH

Linked Data

• dbSNP Id: rs199822819
• gnomAD v4: 1-241512001-G-A
• MyVariant Identifiers: chr1:g.241675301G>A (hg19) ; chr1:g.241512001G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512001G>A , CM000663.2:g.241512001G>A	GRCh38
NC_000001.10:g.241675301G>A , CM000663.1:g.241675301G>A	GRCh37
NC_000001.9:g.239741924G>A	NCBI36
NG_012338.1:g.12754C>T , LRG_504:g.12754C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1024C>T
ENST00000682162.1:c.550C>T	ENSP00000508203.1:n.550C>T
ENST00000682567.1:n.598C>T
ENST00000683521.1:c.521C>T	ENSP00000506864.1:p.Pro174Leu
ENST00000684483.1:c.521C>T	ENSP00000507894.1:p.Pro174Leu
ENST00000366560.4:c.521C>T MANE Select	ENSP00000355518.4:p.Pro174Leu
ENST00000366560.3:c.521C>T	ENSP00000355518.3:p.Pro174Leu
ENST00000497042.1:n.217C>T
NM_000143.3:c.521C>T , LRG_504t1:c.521C>T	NP_000134.2:p.Pro174Leu
XM_011544132.1:c.293C>T	XP_011542434.1:p.Pro98Leu
XM_011544132.2:c.293C>T	XP_011542434.1:p.Pro98Leu
NM_000143.4:c.521C>T MANE Select	NP_000134.2:p.Pro174Leu