Canonical Allele Identifier: CA458871357

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2967007
• ClinVar RCV Id: RCV003829141
• MyVariant Identifiers: chr7:g.150647410C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950322C>T , CM000669.2:g.150950322C>T	GRCh38
NC_000007.13:g.150647410C>T , CM000669.1:g.150647410C>T	GRCh37
NC_000007.12:g.150278343C>T	NCBI36
NG_008916.1:g.32605G>A , LRG_288:g.32605G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1542G>A
ENST00000684241.1:n.3077G>A
ENST00000262186.10:c.2244G>A MANE Select	ENSP00000262186.5:p.Lys748=
ENST00000330883.9:c.1224G>A	ENSP00000328531.4:p.Lys408=
ENST00000262186.9:c.2244G>A	ENSP00000262186.5:p.Lys748=
ENST00000330883.8:c.1224G>A	ENSP00000328531.4:p.Lys408=
ENST00000430723.4:c.1896G>A	ENSP00000387657.4:p.Lys632=
ENST00000461280.1:n.1531G>A
ENST00000473610.5:n.1876G>A
ENST00000532957.5:n.2467G>A
NM_000238.3:c.2244G>A , LRG_288t1:c.2244G>A	NP_000229.1:p.Lys748=
NM_001204798.1:c.1224G>A	NP_001191727.1:p.Lys408=
NM_172056.2:c.2244G>A , LRG_288t2:c.2244G>A	NP_742053.1:p.Lys748=
NM_172057.2:c.1224G>A , LRG_288t3:c.1224G>A	NP_742054.1:p.Lys408=
XM_011516185.1:c.1944G>A	XP_011514487.1:p.Lys648=
XM_011516186.1:c.2244G>A	XP_011514488.1:p.Lys748=
XM_011516185.2:c.1944G>A	XP_011514487.1:p.Lys648=
XM_011516186.3:c.2244G>A	XP_011514488.1:p.Lys748=
XM_017012195.1:c.2094G>A	XP_016867684.1:p.Lys698=
XM_017012196.1:c.2067G>A	XP_016867685.1:p.Lys689=
NM_000238.4:c.2244G>A MANE Select	NP_000229.1:p.Lys748=
NM_001204798.2:c.1224G>A	NP_001191727.1:p.Lys408=
NM_172057.3:c.1224G>A	NP_742054.1:p.Lys408=