Canonical Allele Identifier: CA458645737

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150649864A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952776A>G , CM000669.2:g.150952776A>G	GRCh38
NC_000007.13:g.150649864A>G , CM000669.1:g.150649864A>G	GRCh37
NC_000007.12:g.150280797A>G	NCBI36
NG_008916.1:g.30151T>C , LRG_288:g.30151T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.504T>C
ENST00000684116.1:n.99T>C
ENST00000684241.1:n.2039T>C
ENST00000262186.10:c.1206T>C MANE Select	ENSP00000262186.5:p.His402=
ENST00000330883.9:c.186T>C	ENSP00000328531.4:p.His62=
ENST00000262186.9:c.1206T>C	ENSP00000262186.5:p.His402=
ENST00000330883.8:c.186T>C	ENSP00000328531.4:p.His62=
ENST00000430723.4:c.858T>C	ENSP00000387657.4:p.His286=
ENST00000461280.1:n.493T>C
ENST00000473610.5:n.511T>C
ENST00000532957.5:n.1429T>C
NM_000238.3:c.1206T>C , LRG_288t1:c.1206T>C	NP_000229.1:p.His402=
NM_001204798.1:c.186T>C	NP_001191727.1:p.His62=
NM_172056.2:c.1206T>C , LRG_288t2:c.1206T>C	NP_742053.1:p.His402=
NM_172057.2:c.186T>C , LRG_288t3:c.186T>C	NP_742054.1:p.His62=
XM_011516185.1:c.906T>C	XP_011514487.1:p.His302=
XM_011516186.1:c.1206T>C	XP_011514488.1:p.His402=
XM_011516185.2:c.906T>C	XP_011514487.1:p.His302=
XM_011516186.3:c.1206T>C	XP_011514488.1:p.His402=
XM_017012195.1:c.1056T>C	XP_016867684.1:p.His352=
XM_017012196.1:c.1029T>C	XP_016867685.1:p.His343=
NM_000238.4:c.1206T>C MANE Select	NP_000229.1:p.His402=
NM_001204798.2:c.186T>C	NP_001191727.1:p.His62=
NM_172057.3:c.186T>C	NP_742054.1:p.His62=