Canonical Allele Identifier: CA1478652

Gene: FH

Linked Data

• ClinVar Variation Id: 405926
• ClinVar RCV Id: RCV000475091 ; RCV001024280 ; RCV001569283 ; RCV002268072 ; RCV002489019
• dbSNP Id: rs370229813
• ExAC: 1:241672089 T / C
• gnomAD v2: 1-241672089-T-C
• gnomAD v3: 1-241508789-T-C
• gnomAD v4: 1-241508789-T-C
• MyVariant Identifiers: chr1:g.241672089T>C (hg19) ; chr1:g.241508789T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508789T>C , CM000663.2:g.241508789T>C	GRCh38
NC_000001.10:g.241672089T>C , CM000663.1:g.241672089T>C	GRCh37
NC_000001.9:g.239738712T>C	NCBI36
NG_012338.1:g.15966A>G , LRG_504:g.15966A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1059-4A>G
ENST00000682162.1:c.585-4A>G	ENSP00000508203.1:n.585-4A>G
ENST00000682567.1:n.633-4A>G
ENST00000683521.1:c.556-4A>G	ENSP00000506864.1:n.556-4A>G
ENST00000684161.1:n.1767A>G
ENST00000684483.1:c.556-29A>G	ENSP00000507894.1:n.556-29A>G
ENST00000366560.4:c.556-4A>G MANE Select	ENSP00000355518.4:n.556-4A>G
ENST00000366560.3:c.556-4A>G	ENSP00000355518.3:n.556-4A>G
NM_000143.3:c.556-4A>G , LRG_504t1:c.556-4A>G	NP_000134.2:n.556-4A>G
XM_011544132.1:c.328-4A>G	XP_011542434.1:n.328-4A>G
XM_011544132.2:c.328-4A>G	XP_011542434.1:n.328-4A>G
NM_000143.4:c.556-4A>G MANE Select	NP_000134.2:n.556-4A>G