Canonical Allele Identifier: CA458645126

Gene: KCNH2

Linked Data

• dbSNP Id: rs1190662760
• gnomAD v2: 7-150645968-C-T
• gnomAD v4: 7-150948880-C-T
• MyVariant Identifiers: chr7:g.150645968C>T (hg19) ; chr7:g.150948880C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948880C>T , CM000669.2:g.150948880C>T	GRCh38
NC_000007.13:g.150645968C>T , CM000669.1:g.150645968C>T	GRCh37
NC_000007.12:g.150276901C>T	NCBI36
NG_008916.1:g.34047G>A , LRG_288:g.34047G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3401G>A
ENST00000262186.10:c.2568G>A MANE Select	ENSP00000262186.5:p.Leu856=
ENST00000330883.9:c.1548G>A	ENSP00000328531.4:p.Leu516=
ENST00000262186.9:c.2568G>A	ENSP00000262186.5:p.Leu856=
ENST00000330883.8:c.1548G>A	ENSP00000328531.4:p.Leu516=
NM_000238.3:c.2568G>A , LRG_288t1:c.2568G>A	NP_000229.1:p.Leu856=
NM_172057.2:c.1548G>A , LRG_288t3:c.1548G>A	NP_742054.1:p.Leu516=
XM_011516185.1:c.2268G>A	XP_011514487.1:p.Leu756=
XM_011516186.1:c.2568G>A	XP_011514488.1:p.Leu856=
XM_011516185.2:c.2268G>A	XP_011514487.1:p.Leu756=
XM_011516186.3:c.2568G>A	XP_011514488.1:p.Leu856=
XM_017012195.1:c.2418G>A	XP_016867684.1:p.Leu806=
XM_017012196.1:c.2391G>A	XP_016867685.1:p.Leu797=
NM_000238.4:c.2568G>A MANE Select	NP_000229.1:p.Leu856=
NM_172057.3:c.1548G>A	NP_742054.1:p.Leu516=