Canonical Allele Identifier: CA369852613

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2114739
• ClinVar RCV Id: RCV003042935
• dbSNP Id: rs200799870
• gnomAD v2: 7-150644457-G-T
• gnomAD v3: 7-150947369-G-T
• gnomAD v4: 7-150947369-G-T
• MyVariant Identifiers: chr7:g.150644457G>T (hg19) ; chr7:g.150947369G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947369G>T , CM000669.2:g.150947369G>T	GRCh38
NC_000007.13:g.150644457G>T , CM000669.1:g.150644457G>T	GRCh37
NC_000007.12:g.150275390G>T	NCBI36
NG_008916.1:g.35558C>A , LRG_288:g.35558C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3944C>A
ENST00000262186.10:c.3111C>A MANE Select	ENSP00000262186.5:p.Asp1037Glu
ENST00000330883.9:c.2091C>A	ENSP00000328531.4:p.Asp697Glu
ENST00000262186.9:c.3111C>A	ENSP00000262186.5:p.Asp1037Glu
ENST00000330883.8:c.2091C>A	ENSP00000328531.4:p.Asp697Glu
NM_000238.3:c.3111C>A , LRG_288t1:c.3111C>A	NP_000229.1:p.Asp1037Glu
NM_172057.2:c.2091C>A , LRG_288t3:c.2091C>A	NP_742054.1:p.Asp697Glu
XM_011516185.1:c.2811C>A	XP_011514487.1:p.Asp937Glu
XM_011516185.2:c.2811C>A	XP_011514487.1:p.Asp937Glu
XM_017012195.1:c.2961C>A	XP_016867684.1:p.Asp987Glu
XM_017012196.1:c.2934C>A	XP_016867685.1:p.Asp978Glu
NM_000238.4:c.3111C>A MANE Select	NP_000229.1:p.Asp1037Glu
NM_172057.3:c.2091C>A	NP_742054.1:p.Asp697Glu