Canonical Allele Identifier: CA458871374

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150647422T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950334T>G , CM000669.2:g.150950334T>G	GRCh38
NC_000007.13:g.150647422T>G , CM000669.1:g.150647422T>G	GRCh37
NC_000007.12:g.150278355T>G	NCBI36
NG_008916.1:g.32593A>C , LRG_288:g.32593A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1530A>C
ENST00000684241.1:n.3065A>C
ENST00000262186.10:c.2232A>C MANE Select	ENSP00000262186.5:p.Arg744=
ENST00000330883.9:c.1212A>C	ENSP00000328531.4:p.Arg404=
ENST00000262186.9:c.2232A>C	ENSP00000262186.5:p.Arg744=
ENST00000330883.8:c.1212A>C	ENSP00000328531.4:p.Arg404=
ENST00000430723.4:c.1884A>C	ENSP00000387657.4:p.Arg628=
ENST00000461280.1:n.1519A>C
ENST00000473610.5:n.1864A>C
ENST00000532957.5:n.2455A>C
NM_000238.3:c.2232A>C , LRG_288t1:c.2232A>C	NP_000229.1:p.Arg744=
NM_001204798.1:c.1212A>C	NP_001191727.1:p.Arg404=
NM_172056.2:c.2232A>C , LRG_288t2:c.2232A>C	NP_742053.1:p.Arg744=
NM_172057.2:c.1212A>C , LRG_288t3:c.1212A>C	NP_742054.1:p.Arg404=
XM_011516185.1:c.1932A>C	XP_011514487.1:p.Arg644=
XM_011516186.1:c.2232A>C	XP_011514488.1:p.Arg744=
XM_011516185.2:c.1932A>C	XP_011514487.1:p.Arg644=
XM_011516186.3:c.2232A>C	XP_011514488.1:p.Arg744=
XM_017012195.1:c.2082A>C	XP_016867684.1:p.Arg694=
XM_017012196.1:c.2055A>C	XP_016867685.1:p.Arg685=
NM_000238.4:c.2232A>C MANE Select	NP_000229.1:p.Arg744=
NM_001204798.2:c.1212A>C	NP_001191727.1:p.Arg404=
NM_172057.3:c.1212A>C	NP_742054.1:p.Arg404=