Canonical Allele Identifier: CA169081204

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1492770
• ClinVar RCV Id: RCV002012486
• dbSNP Id: rs1045234210
• gnomAD v4: 7-150958131-C-G
• MyVariant Identifiers: chr7:g.150655219C>G (hg19) ; chr7:g.150958131C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958131C>G , CM000669.2:g.150958131C>G	GRCh38
NC_000007.13:g.150655219C>G , CM000669.1:g.150655219C>G	GRCh37
NC_000007.12:g.150286152C>G	NCBI36
NG_008916.1:g.24796G>C , LRG_288:g.24796G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1677G>C
ENST00000262186.10:c.844G>C MANE Select	ENSP00000262186.5:p.Ala282Pro
ENST00000262186.9:c.844G>C	ENSP00000262186.5:p.Ala282Pro
ENST00000430723.4:c.496G>C	ENSP00000387657.4:p.Ala166Pro
ENST00000532957.5:n.1067G>C
NM_000238.3:c.844G>C , LRG_288t1:c.844G>C	NP_000229.1:p.Ala282Pro
NM_172056.2:c.844G>C , LRG_288t2:c.844G>C	NP_742053.1:p.Ala282Pro
XM_011516185.1:c.544G>C	XP_011514487.1:p.Ala182Pro
XM_011516186.1:c.844G>C	XP_011514488.1:p.Ala282Pro
XM_011516185.2:c.544G>C	XP_011514487.1:p.Ala182Pro
XM_011516186.3:c.844G>C	XP_011514488.1:p.Ala282Pro
XM_017012195.1:c.694G>C	XP_016867684.1:p.Ala232Pro
XM_017012196.1:c.667G>C	XP_016867685.1:p.Ala223Pro
NM_000238.4:c.844G>C MANE Select	NP_000229.1:p.Ala282Pro