Canonical Allele Identifier: CA324662

Gene: FH

Linked Data

• ClinVar Variation Id: 214411
• ClinVar RCV Id: RCV000200102
• dbSNP Id: rs863223998
• MyVariant Identifiers: chr1:g.241671905G>A (hg19) ; chr1:g.241508605G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241508605G>A , CM000663.2:g.241508605G>A	GRCh38
NC_000001.10:g.241671905G>A , CM000663.1:g.241671905G>A	GRCh37
NC_000001.9:g.239738528G>A	NCBI36
NG_012338.1:g.16150C>T , LRG_504:g.16150C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1239C>T
ENST00000682162.1:c.765C>T	ENSP00000508203.1:n.765C>T
ENST00000682567.1:n.813C>T
ENST00000683521.1:c.736C>T	ENSP00000506864.1:p.Gln246Ter
ENST00000684161.1:n.1951C>T
ENST00000684483.1:c.*132C>T	ENSP00000507894.1:n.*132C>T
ENST00000366560.4:c.736C>T MANE Select	ENSP00000355518.4:p.Gln246Ter
ENST00000366560.3:c.736C>T	ENSP00000355518.3:p.Gln246Ter
NM_000143.3:c.736C>T , LRG_504t1:c.736C>T	NP_000134.2:p.Gln246Ter
XM_011544132.1:c.508C>T	XP_011542434.1:p.Gln170Ter
XM_011544132.2:c.508C>T	XP_011542434.1:p.Gln170Ter
NM_000143.4:c.736C>T MANE Select	NP_000134.2:p.Gln246Ter