Canonical Allele Identifier: CA321926

Gene: FH

Linked Data

• dbSNP Id: rs863223974
• gnomAD v2: 1-241665811-T-A
• gnomAD v4: 1-241502511-T-A
• MyVariant Identifiers: chr1:g.241665811T>A (hg19) ; chr1:g.241502511T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502511T>A , CM000663.2:g.241502511T>A	GRCh38
NC_000001.10:g.241665811T>A , CM000663.1:g.241665811T>A	GRCh37
NC_000001.9:g.239732434T>A	NCBI36
NG_012338.1:g.22244A>T , LRG_504:g.22244A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493477.2:n.1671A>T
ENST00000682162.1:c.1197A>T	ENSP00000508203.1:n.1197A>T
ENST00000682567.1:n.2716A>T
ENST00000683521.1:c.1168A>T	ENSP00000506864.1:p.Asn390Tyr
ENST00000684161.1:n.2383A>T
ENST00000684483.1:c.*564A>T	ENSP00000507894.1:n.*564A>T
ENST00000366560.4:c.1168A>T MANE Select	ENSP00000355518.4:p.Asn390Tyr
ENST00000366560.3:c.1168A>T	ENSP00000355518.3:p.Asn390Tyr
NM_000143.3:c.1168A>T , LRG_504t1:c.1168A>T	NP_000134.2:p.Asn390Tyr
XM_011544132.1:c.940A>T	XP_011542434.1:p.Asn314Tyr
XM_011544132.2:c.940A>T	XP_011542434.1:p.Asn314Tyr
NM_000143.4:c.1168A>T MANE Select	NP_000134.2:p.Asn390Tyr