Canonical Allele Identifier: CA530379057

Gene: FH

Linked Data

• ClinVar Variation Id: 1591135
• ClinVar RCV Id: RCV003015303
• dbSNP Id: rs1282569432
• gnomAD v2: 1-241672097-T-G
• gnomAD v3: 1-241508797-T-G
• gnomAD v4: 1-241508797-T-G
• MyVariant Identifiers: chr1:g.241672097T>G (hg19) ; chr1:g.241508797T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508797T>G , CM000663.2:g.241508797T>G	GRCh38
NC_000001.10:g.241672097T>G , CM000663.1:g.241672097T>G	GRCh37
NC_000001.9:g.239738720T>G	NCBI36
NG_012338.1:g.15958A>C , LRG_504:g.15958A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1059-12A>C
ENST00000682162.1:c.585-12A>C	ENSP00000508203.1:n.585-12A>C
ENST00000682567.1:n.633-12A>C
ENST00000683521.1:c.556-12A>C	ENSP00000506864.1:n.556-12A>C
ENST00000684161.1:n.1759A>C
ENST00000684483.1:c.556-37A>C	ENSP00000507894.1:n.556-37A>C
ENST00000366560.4:c.556-12A>C MANE Select	ENSP00000355518.4:n.556-12A>C
ENST00000366560.3:c.556-12A>C	ENSP00000355518.3:n.556-12A>C
NM_000143.3:c.556-12A>C , LRG_504t1:c.556-12A>C	NP_000134.2:n.556-12A>C
XM_011544132.1:c.328-12A>C	XP_011542434.1:n.328-12A>C
XM_011544132.2:c.328-12A>C	XP_011542434.1:n.328-12A>C
NM_000143.4:c.556-12A>C MANE Select	NP_000134.2:n.556-12A>C