Canonical Allele Identifier: CA10610829

Gene: FH

Linked Data

• ClinVar Variation Id: 296877
• ClinVar RCV Id: RCV000285539 ; RCV000342804 ; RCV000564813 ; RCV001711883
• dbSNP Id: rs201277370
• gnomAD v2: 1-241683011-T-C
• gnomAD v3: 1-241519711-T-C
• gnomAD v4: 1-241519711-T-C
• MyVariant Identifiers: chr1:g.241683011T>C (hg19) ; chr1:g.241519711T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241519711T>C , CM000663.2:g.241519711T>C	GRCh38
NC_000001.10:g.241683011T>C , CM000663.1:g.241683011T>C	GRCh37
NC_000001.9:g.239749634T>C	NCBI36
NG_012338.1:g.5044A>G , LRG_504:g.5044A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682162.1:c.12A>G	ENSP00000508203.1:p.Ala4=
ENST00000682567.1:n.89A>G
ENST00000683521.1:c.12A>G	ENSP00000506864.1:p.Ala4=
ENST00000684483.1:c.12A>G	ENSP00000507894.1:p.Ala4=
ENST00000366560.4:c.12A>G MANE Select	ENSP00000355518.4:p.Ala4=
ENST00000366560.3:c.12A>G	ENSP00000355518.3:p.Ala4=
NM_000143.3:c.12A>G , LRG_504t1:c.12A>G	NP_000134.2:p.Ala4=
NM_000143.4:c.12A>G MANE Select	NP_000134.2:p.Ala4=