Canonical Allele Identifier: CA458645132

Gene: KCNH2

Linked Data

• dbSNP Id: rs1419598970
• gnomAD v2: 7-150645983-G-A
• gnomAD v4: 7-150948895-G-A
• MyVariant Identifiers: chr7:g.150645983G>A (hg19) ; chr7:g.150948895G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948895G>A , CM000669.2:g.150948895G>A	GRCh38
NC_000007.13:g.150645983G>A , CM000669.1:g.150645983G>A	GRCh37
NC_000007.12:g.150276916G>A	NCBI36
NG_008916.1:g.34032C>T , LRG_288:g.34032C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3386C>T
ENST00000262186.10:c.2553C>T MANE Select	ENSP00000262186.5:p.His851=
ENST00000330883.9:c.1533C>T	ENSP00000328531.4:p.His511=
ENST00000262186.9:c.2553C>T	ENSP00000262186.5:p.His851=
ENST00000330883.8:c.1533C>T	ENSP00000328531.4:p.His511=
NM_000238.3:c.2553C>T , LRG_288t1:c.2553C>T	NP_000229.1:p.His851=
NM_172057.2:c.1533C>T , LRG_288t3:c.1533C>T	NP_742054.1:p.His511=
XM_011516185.1:c.2253C>T	XP_011514487.1:p.His751=
XM_011516186.1:c.2553C>T	XP_011514488.1:p.His851=
XM_011516185.2:c.2253C>T	XP_011514487.1:p.His751=
XM_011516186.3:c.2553C>T	XP_011514488.1:p.His851=
XM_017012195.1:c.2403C>T	XP_016867684.1:p.His801=
XM_017012196.1:c.2376C>T	XP_016867685.1:p.His792=
NM_000238.4:c.2553C>T MANE Select	NP_000229.1:p.His851=
NM_172057.3:c.1533C>T	NP_742054.1:p.His511=