Canonical Allele Identifier: CA424075656

Gene: FH

Linked Data

• MyVariant Identifiers: chr1:g.241665761A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.241502461A>G , CM000663.2:g.241502461A>G	GRCh38
NC_000001.10:g.241665761A>G , CM000663.1:g.241665761A>G	GRCh37
NC_000001.9:g.239732384A>G	NCBI36
NG_012338.1:g.22294T>C , LRG_504:g.22294T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000493477.2:n.1721T>C
ENST00000682162.1:c.1247T>C	ENSP00000508203.1:n.1247T>C
ENST00000682567.1:n.2766T>C
ENST00000683521.1:c.1218T>C	ENSP00000506864.1:p.Asn406=
ENST00000684161.1:n.2433T>C
ENST00000684483.1:c.*614T>C	ENSP00000507894.1:n.*614T>C
ENST00000366560.4:c.1218T>C MANE Select	ENSP00000355518.4:p.Asn406=
ENST00000366560.3:c.1218T>C	ENSP00000355518.3:p.Asn406=
NM_000143.3:c.1218T>C , LRG_504t1:c.1218T>C	NP_000134.2:p.Asn406=
XM_011544132.1:c.990T>C	XP_011542434.1:p.Asn330=
XM_011544132.2:c.990T>C	XP_011542434.1:p.Asn330=
NM_000143.4:c.1218T>C MANE Select	NP_000134.2:p.Asn406=