Canonical Allele Identifier: CA424076595

Gene: FH

Linked Data

• ClinVar Variation Id: 1105236
• ClinVar RCV Id: RCV002420966 ; RCV002555155
• dbSNP Id: rs1060500883
• gnomAD v3: 1-241517245-A-G
• gnomAD v4: 1-241517245-A-G
• MyVariant Identifiers: chr1:g.241680545A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517245A>G , CM000663.2:g.241517245A>G	GRCh38
NC_000001.10:g.241680545A>G , CM000663.1:g.241680545A>G	GRCh37
NC_000001.9:g.239747168A>G	NCBI36
NG_012338.1:g.7510T>C , LRG_504:g.7510T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.707T>C
ENST00000682162.1:c.233T>C	ENSP00000508203.1:n.233T>C
ENST00000682567.1:n.281T>C
ENST00000683521.1:c.204T>C	ENSP00000506864.1:p.Tyr68=
ENST00000684483.1:c.204T>C	ENSP00000507894.1:p.Tyr68=
ENST00000366560.4:c.204T>C MANE Select	ENSP00000355518.4:p.Tyr68=
ENST00000366560.3:c.204T>C	ENSP00000355518.3:p.Tyr68=
ENST00000493477.1:n.317T>C
NM_000143.3:c.204T>C , LRG_504t1:c.204T>C	NP_000134.2:p.Tyr68=
XM_011544132.1:c.-25T>C	XP_011542434.1:n.-25T>C
XM_011544132.2:c.-25T>C	XP_011542434.1:n.-25T>C
NM_000143.4:c.204T>C MANE Select	NP_000134.2:p.Tyr68=