Canonical Allele Identifier: CA345439958

Gene: FH

Linked Data

• ClinVar Variation Id: 1927363
• ClinVar RCV Id: RCV002621661
• dbSNP Id: rs1323852794
• gnomAD v2: 1-241675319-T-A
• gnomAD v3: 1-241512019-T-A
• gnomAD v4: 1-241512019-T-A
• MyVariant Identifiers: chr1:g.241675319T>A (hg19) ; chr1:g.241512019T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241512019T>A , CM000663.2:g.241512019T>A	GRCh38
NC_000001.10:g.241675319T>A , CM000663.1:g.241675319T>A	GRCh37
NC_000001.9:g.239741942T>A	NCBI36
NG_012338.1:g.12736A>T , LRG_504:g.12736A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1006A>T
ENST00000682162.1:c.532A>T	ENSP00000508203.1:n.532A>T
ENST00000682567.1:n.580A>T
ENST00000683521.1:c.503A>T	ENSP00000506864.1:p.Glu168Val
ENST00000684483.1:c.503A>T	ENSP00000507894.1:p.Glu168Val
ENST00000366560.4:c.503A>T MANE Select	ENSP00000355518.4:p.Glu168Val
ENST00000366560.3:c.503A>T	ENSP00000355518.3:p.Glu168Val
ENST00000497042.1:n.199A>T
NM_000143.3:c.503A>T , LRG_504t1:c.503A>T	NP_000134.2:p.Glu168Val
XM_011544132.1:c.275A>T	XP_011542434.1:p.Glu92Val
XM_011544132.2:c.275A>T	XP_011542434.1:p.Glu92Val
NM_000143.4:c.503A>T MANE Select	NP_000134.2:p.Glu168Val