Canonical Allele Identifier: CA10609675

Gene: FH

Linked Data

• ClinVar Variation Id: 296878
• ClinVar RCV Id: RCV000307949 ; RCV000369616 ; RCV002522126 ; RCV002418146
• dbSNP Id: rs776806414
• gnomAD v2: 1-241683022-T-G
• gnomAD v4: 1-241519722-T-G
• MyVariant Identifiers: chr1:g.241683022T>G (hg19) ; chr1:g.241519722T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241519722T>G , CM000663.2:g.241519722T>G	GRCh38
NC_000001.10:g.241683022T>G , CM000663.1:g.241683022T>G	GRCh37
NC_000001.9:g.239749645T>G	NCBI36
NG_012338.1:g.5033A>C , LRG_504:g.5033A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682162.1:c.1A>C	ENSP00000508203.1:p.Met1Leu
ENST00000682567.1:n.78A>C
ENST00000683521.1:c.1A>C	ENSP00000506864.1:p.Met1Leu
ENST00000684483.1:c.1A>C	ENSP00000507894.1:p.Met1Leu
ENST00000366560.4:c.1A>C MANE Select	ENSP00000355518.4:p.Met1Leu
ENST00000366560.3:c.1A>C	ENSP00000355518.3:p.Met1Leu
NM_000143.3:c.1A>C , LRG_504t1:c.1A>C	NP_000134.2:p.Met1Leu
NM_000143.4:c.1A>C MANE Select	NP_000134.2:p.Met1Leu