Canonical Allele Identifier: CA1478753

Gene: FH

Linked Data

• dbSNP Id: rs766840026
• ExAC: 1:241680566 C / A
• gnomAD v2: 1-241680566-C-A
• gnomAD v4: 1-241517266-C-A
• MyVariant Identifiers: chr1:g.241680566C>A (hg19) ; chr1:g.241517266C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241517266C>A , CM000663.2:g.241517266C>A	GRCh38
NC_000001.10:g.241680566C>A , CM000663.1:g.241680566C>A	GRCh37
NC_000001.9:g.239747189C>A	NCBI36
NG_012338.1:g.7489G>T , LRG_504:g.7489G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.686G>T
ENST00000682162.1:c.212G>T	ENSP00000508203.1:n.212G>T
ENST00000682567.1:n.260G>T
ENST00000683521.1:c.183G>T	ENSP00000506864.1:p.Lys61Asn
ENST00000684483.1:c.183G>T	ENSP00000507894.1:p.Lys61Asn
ENST00000366560.4:c.183G>T MANE Select	ENSP00000355518.4:p.Lys61Asn
ENST00000366560.3:c.183G>T	ENSP00000355518.3:p.Lys61Asn
ENST00000493477.1:n.296G>T
NM_000143.3:c.183G>T , LRG_504t1:c.183G>T	NP_000134.2:p.Lys61Asn
XM_011544132.1:c.-46G>T	XP_011542434.1:n.-46G>T
XM_011544132.2:c.-46G>T	XP_011542434.1:n.-46G>T
NM_000143.4:c.183G>T MANE Select	NP_000134.2:p.Lys61Asn