Canonical Allele Identifier: CA458645462

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801134467
• MyVariant Identifiers: chr7:g.150648159C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951071C>G , CM000669.2:g.150951071C>G	GRCh38
NC_000007.13:g.150648159C>G , CM000669.1:g.150648159C>G	GRCh37
NC_000007.12:g.150279092C>G	NCBI36
NG_008916.1:g.31856G>C , LRG_288:g.31856G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1293G>C
ENST00000683359.1:n.119G>C
ENST00000684241.1:n.2828G>C
ENST00000262186.10:c.1995G>C MANE Select	ENSP00000262186.5:p.Arg665=
ENST00000330883.9:c.975G>C	ENSP00000328531.4:p.Arg325=
ENST00000262186.9:c.1995G>C	ENSP00000262186.5:p.Arg665=
ENST00000330883.8:c.975G>C	ENSP00000328531.4:p.Arg325=
ENST00000430723.4:c.1647G>C	ENSP00000387657.4:p.Arg549=
ENST00000461280.1:n.1282G>C
ENST00000473610.5:n.1627G>C
ENST00000532957.5:n.2218G>C
NM_000238.3:c.1995G>C , LRG_288t1:c.1995G>C	NP_000229.1:p.Arg665=
NM_001204798.1:c.975G>C	NP_001191727.1:p.Arg325=
NM_172056.2:c.1995G>C , LRG_288t2:c.1995G>C	NP_742053.1:p.Arg665=
NM_172057.2:c.975G>C , LRG_288t3:c.975G>C	NP_742054.1:p.Arg325=
XM_011516185.1:c.1695G>C	XP_011514487.1:p.Arg565=
XM_011516186.1:c.1995G>C	XP_011514488.1:p.Arg665=
XM_011516185.2:c.1695G>C	XP_011514487.1:p.Arg565=
XM_011516186.3:c.1995G>C	XP_011514488.1:p.Arg665=
XM_017012195.1:c.1845G>C	XP_016867684.1:p.Arg615=
XM_017012196.1:c.1818G>C	XP_016867685.1:p.Arg606=
NM_000238.4:c.1995G>C MANE Select	NP_000229.1:p.Arg665=
NM_001204798.2:c.975G>C	NP_001191727.1:p.Arg325=
NM_172057.3:c.975G>C	NP_742054.1:p.Arg325=