Canonical Allele Identifier: CA458871448

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2916410
• ClinVar RCV Id: RCV003649084
• dbSNP Id: rs1276421279
• gnomAD v2: 7-150648543-G-A
• gnomAD v3: 7-150951455-G-A
• gnomAD v4: 7-150951455-G-A
• MyVariant Identifiers: chr7:g.150648543G>A (hg19) ; chr7:g.150951455G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951455G>A , CM000669.2:g.150951455G>A	GRCh38
NC_000007.13:g.150648543G>A , CM000669.1:g.150648543G>A	GRCh37
NC_000007.12:g.150279476G>A	NCBI36
NG_008916.1:g.31472C>T , LRG_288:g.31472C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1236C>T
ENST00000683359.1:n.62C>T
ENST00000684241.1:n.2771C>T
ENST00000262186.10:c.1938C>T MANE Select	ENSP00000262186.5:p.Leu646=
ENST00000330883.9:c.918C>T	ENSP00000328531.4:p.Leu306=
ENST00000262186.9:c.1938C>T	ENSP00000262186.5:p.Leu646=
ENST00000330883.8:c.918C>T	ENSP00000328531.4:p.Leu306=
ENST00000430723.4:c.1590C>T	ENSP00000387657.4:p.Leu530=
ENST00000461280.1:n.1225C>T
ENST00000473610.5:n.1243C>T
ENST00000532957.5:n.2161C>T
NM_000238.3:c.1938C>T , LRG_288t1:c.1938C>T	NP_000229.1:p.Leu646=
NM_001204798.1:c.918C>T	NP_001191727.1:p.Leu306=
NM_172056.2:c.1938C>T , LRG_288t2:c.1938C>T	NP_742053.1:p.Leu646=
NM_172057.2:c.918C>T , LRG_288t3:c.918C>T	NP_742054.1:p.Leu306=
XM_011516185.1:c.1638C>T	XP_011514487.1:p.Leu546=
XM_011516186.1:c.1938C>T	XP_011514488.1:p.Leu646=
XM_011516185.2:c.1638C>T	XP_011514487.1:p.Leu546=
XM_011516186.3:c.1938C>T	XP_011514488.1:p.Leu646=
XM_017012195.1:c.1788C>T	XP_016867684.1:p.Leu596=
XM_017012196.1:c.1761C>T	XP_016867685.1:p.Leu587=
NM_000238.4:c.1938C>T MANE Select	NP_000229.1:p.Leu646=
NM_001204798.2:c.918C>T	NP_001191727.1:p.Leu306=
NM_172057.3:c.918C>T	NP_742054.1:p.Leu306=