Canonical Allele Identifier: CA10609921

Gene: FH

Linked Data

• ClinVar Variation Id: 296864
• ClinVar RCV Id: RCV000270742 ; RCV000325826 ; RCV001711881 ; RCV003320627
• dbSNP Id: rs74405673
• gnomAD v3: 1-241500602-T-A
• gnomAD v4: 1-241500602-T-A
• MyVariant Identifiers: chr1:g.241663902T>A (hg19) ; chr1:g.241500602T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241500602T>A , CM000663.2:g.241500602T>A	GRCh38
NC_000001.10:g.241663902T>A , CM000663.1:g.241663902T>A	GRCh37
NC_000001.9:g.239730525T>A	NCBI36
NG_012338.1:g.24153A>T , LRG_504:g.24153A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1740-12A>T
ENST00000682162.1:c.1266-12A>T	ENSP00000508203.1:n.1266-12A>T
ENST00000682567.1:n.4625A>T
ENST00000683521.1:c.1237-12A>T	ENSP00000506864.1:n.1237-12A>T
ENST00000684161.1:n.2452-12A>T
ENST00000684483.1:c.*633-12A>T	ENSP00000507894.1:n.*633-12A>T
ENST00000366560.4:c.1237-12A>T MANE Select	ENSP00000355518.4:n.1237-12A>T
ENST00000366560.3:c.1237-12A>T	ENSP00000355518.3:n.1237-12A>T
NM_000143.3:c.1237-12A>T , LRG_504t1:c.1237-12A>T	NP_000134.2:n.1237-12A>T
XM_011544132.1:c.1009-12A>T	XP_011542434.1:n.1009-12A>T
XM_011544132.2:c.1009-12A>T	XP_011542434.1:n.1009-12A>T
NM_000143.4:c.1237-12A>T MANE Select	NP_000134.2:n.1237-12A>T