Canonical Allele Identifier: CA458871527

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2773446
• ClinVar RCV Id: RCV003592271 ; RCV004011470
• MyVariant Identifiers: chr7:g.150648687G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951599G>A , CM000669.2:g.150951599G>A	GRCh38
NC_000007.13:g.150648687G>A , CM000669.1:g.150648687G>A	GRCh37
NC_000007.12:g.150279620G>A	NCBI36
NG_008916.1:g.31328C>T , LRG_288:g.31328C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1092C>T
ENST00000684241.1:n.2627C>T
ENST00000262186.10:c.1794C>T MANE Select	ENSP00000262186.5:p.Asn598=
ENST00000330883.9:c.774C>T	ENSP00000328531.4:p.Asn258=
ENST00000262186.9:c.1794C>T	ENSP00000262186.5:p.Asn598=
ENST00000330883.8:c.774C>T	ENSP00000328531.4:p.Asn258=
ENST00000430723.4:c.1446C>T	ENSP00000387657.4:p.Asn482=
ENST00000461280.1:n.1081C>T
ENST00000473610.5:n.1099C>T
ENST00000532957.5:n.2017C>T
NM_000238.3:c.1794C>T , LRG_288t1:c.1794C>T	NP_000229.1:p.Asn598=
NM_001204798.1:c.774C>T	NP_001191727.1:p.Asn258=
NM_172056.2:c.1794C>T , LRG_288t2:c.1794C>T	NP_742053.1:p.Asn598=
NM_172057.2:c.774C>T , LRG_288t3:c.774C>T	NP_742054.1:p.Asn258=
XM_011516185.1:c.1494C>T	XP_011514487.1:p.Asn498=
XM_011516186.1:c.1794C>T	XP_011514488.1:p.Asn598=
XM_011516185.2:c.1494C>T	XP_011514487.1:p.Asn498=
XM_011516186.3:c.1794C>T	XP_011514488.1:p.Asn598=
XM_017012195.1:c.1644C>T	XP_016867684.1:p.Asn548=
XM_017012196.1:c.1617C>T	XP_016867685.1:p.Asn539=
NM_000238.4:c.1794C>T MANE Select	NP_000229.1:p.Asn598=
NM_001204798.2:c.774C>T	NP_001191727.1:p.Asn258=
NM_172057.3:c.774C>T	NP_742054.1:p.Asn258=