Canonical Allele Identifier: CA10588288

Gene: FH

Linked Data

• ClinVar Variation Id: 265150
• ClinVar RCV Id: RCV000255853 ; RCV001011336 ; RCV001251427 ; RCV003454775
• dbSNP Id: rs886039367
• gnomAD v4: 1-241500436-C-A
• MyVariant Identifiers: chr1:g.241663736C>A (hg19) ; chr1:g.241500436C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241500436C>A , CM000663.2:g.241500436C>A	GRCh38
NC_000001.10:g.241663736C>A , CM000663.1:g.241663736C>A	GRCh37
NC_000001.9:g.239730359C>A	NCBI36
NG_012338.1:g.24319G>T , LRG_504:g.24319G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1893+1G>T
ENST00000682162.1:c.1419+1G>T	ENSP00000508203.1:n.1419+1G>T
ENST00000682567.1:n.4790+1G>T
ENST00000683521.1:c.1391G>T	ENSP00000506864.1:p.Gly464Val
ENST00000684161.1:n.2605+1G>T
ENST00000684483.1:c.*786+1G>T	ENSP00000507894.1:n.*786+1G>T
ENST00000366560.4:c.1390+1G>T MANE Select	ENSP00000355518.4:n.1390+1G>T
ENST00000366560.3:c.1390+1G>T	ENSP00000355518.3:n.1390+1G>T
NM_000143.3:c.1390+1G>T , LRG_504t1:c.1390+1G>T	NP_000134.2:n.1390+1G>T
XM_011544132.1:c.1162+1G>T	XP_011542434.1:n.1162+1G>T
XM_011544132.2:c.1162+1G>T	XP_011542434.1:n.1162+1G>T
NM_000143.4:c.1390+1G>T MANE Select	NP_000134.2:n.1390+1G>T