Canonical Allele Identifier: CA323468

Gene: FH

Linked Data

• ClinVar Variation Id: 214423
• ClinVar RCV Id: RCV000198930 ; RCV000494502
• dbSNP Id: rs863224008
• MyVariant Identifiers: chr1:g.241661272T>A (hg19) ; chr1:g.241497972T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241497972T>A , CM000663.2:g.241497972T>A	GRCh38
NC_000001.10:g.241661272T>A , CM000663.1:g.241661272T>A	GRCh37
NC_000001.9:g.239727895T>A	NCBI36
NG_012338.1:g.26783A>T , LRG_504:g.26783A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1894-2A>T
ENST00000682162.1:c.1420-2A>T	ENSP00000508203.1:n.1420-2A>T
ENST00000682567.1:n.4791-2A>T
ENST00000684161.1:n.2606-2A>T
ENST00000684483.1:c.*787-2A>T	ENSP00000507894.1:n.*787-2A>T
ENST00000366560.4:c.1391-2A>T MANE Select	ENSP00000355518.4:n.1391-2A>T
ENST00000366560.3:c.1391-2A>T	ENSP00000355518.3:n.1391-2A>T
NM_000143.3:c.1391-2A>T , LRG_504t1:c.1391-2A>T	NP_000134.2:n.1391-2A>T
XM_011544132.1:c.1163-2A>T	XP_011542434.1:n.1163-2A>T
XM_011544132.2:c.1163-2A>T	XP_011542434.1:n.1163-2A>T
NM_000143.4:c.1391-2A>T MANE Select	NP_000134.2:n.1391-2A>T