Canonical Allele Identifier: CA032868

Gene: KCNH2

Linked Data

• dbSNP Id: rs780870457
• ExAC: 7:150646070 C / G
• gnomAD v2: 7-150646070-C-G
• gnomAD v4: 7-150948982-C-G
• MyVariant Identifiers: chr7:g.150646070C>G (hg19) ; chr7:g.150948982C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948982C>G , CM000669.2:g.150948982C>G	GRCh38
NC_000007.13:g.150646070C>G , CM000669.1:g.150646070C>G	GRCh37
NC_000007.12:g.150277003C>G	NCBI36
NG_008916.1:g.33945G>C , LRG_288:g.33945G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3299G>C
ENST00000262186.10:c.2466G>C MANE Select	ENSP00000262186.5:p.Val822=
ENST00000330883.9:c.1446G>C	ENSP00000328531.4:p.Val482=
ENST00000262186.9:c.2466G>C	ENSP00000262186.5:p.Val822=
ENST00000330883.8:c.1446G>C	ENSP00000328531.4:p.Val482=
NM_000238.3:c.2466G>C , LRG_288t1:c.2466G>C	NP_000229.1:p.Val822=
NM_172057.2:c.1446G>C , LRG_288t3:c.1446G>C	NP_742054.1:p.Val482=
XM_011516185.1:c.2166G>C	XP_011514487.1:p.Val722=
XM_011516186.1:c.2466G>C	XP_011514488.1:p.Val822=
XM_011516185.2:c.2166G>C	XP_011514487.1:p.Val722=
XM_011516186.3:c.2466G>C	XP_011514488.1:p.Val822=
XM_017012195.1:c.2316G>C	XP_016867684.1:p.Val772=
XM_017012196.1:c.2289G>C	XP_016867685.1:p.Val763=
NM_000238.4:c.2466G>C MANE Select	NP_000229.1:p.Val822=
NM_172057.3:c.1446G>C	NP_742054.1:p.Val482=