Canonical Allele Identifier: CA187930

Gene: FH

Linked Data

• ClinVar Variation Id: 184137
• ClinVar RCV Id: RCV000163293 ; RCV000467508 ; RCV001532106 ; RCV002291575 ; RCV004555540
• dbSNP Id: rs201878591
• ExAC: 1:241680532 C / T
• gnomAD v2: 1-241680532-C-T
• gnomAD v3: 1-241517232-C-T
• gnomAD v4: 1-241517232-C-T
• MyVariant Identifiers: chr1:g.241680532C>T (hg19) ; chr1:g.241517232C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517232C>T , CM000663.2:g.241517232C>T	GRCh38
NC_000001.10:g.241680532C>T , CM000663.1:g.241680532C>T	GRCh37
NC_000001.9:g.239747155C>T	NCBI36
NG_012338.1:g.7523G>A , LRG_504:g.7523G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.720G>A
ENST00000682162.1:c.246G>A	ENSP00000508203.1:n.246G>A
ENST00000682567.1:n.294G>A
ENST00000683521.1:c.217G>A	ENSP00000506864.1:p.Val73Met
ENST00000684483.1:c.217G>A	ENSP00000507894.1:p.Val73Met
ENST00000366560.4:c.217G>A MANE Select	ENSP00000355518.4:p.Val73Met
ENST00000366560.3:c.217G>A	ENSP00000355518.3:p.Val73Met
ENST00000493477.1:n.330G>A
NM_000143.3:c.217G>A , LRG_504t1:c.217G>A	NP_000134.2:p.Val73Met
XM_011544132.1:c.-12G>A	XP_011542434.1:n.-12G>A
XM_011544132.2:c.-12G>A	XP_011542434.1:n.-12G>A
NM_000143.4:c.217G>A MANE Select	NP_000134.2:p.Val73Met