Canonical Allele Identifier: CA369853036

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150644694C>A (hg19) ; chr7:g.150947606C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947606C>A , CM000669.2:g.150947606C>A	GRCh38
NC_000007.13:g.150644694C>A , CM000669.1:g.150644694C>A	GRCh37
NC_000007.12:g.150275627C>A	NCBI36
NG_008916.1:g.35321G>T , LRG_288:g.35321G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3798G>T
ENST00000262186.10:c.2965G>T MANE Select	ENSP00000262186.5:p.Gly989Cys
ENST00000330883.9:c.1945G>T	ENSP00000328531.4:p.Gly649Cys
ENST00000262186.9:c.2965G>T	ENSP00000262186.5:p.Gly989Cys
ENST00000330883.8:c.1945G>T	ENSP00000328531.4:p.Gly649Cys
NM_000238.3:c.2965G>T , LRG_288t1:c.2965G>T	NP_000229.1:p.Gly989Cys
NM_172057.2:c.1945G>T , LRG_288t3:c.1945G>T	NP_742054.1:p.Gly649Cys
XM_011516185.1:c.2665G>T	XP_011514487.1:p.Gly889Cys
XM_011516186.1:c.*45G>T	XP_011514488.1:n.*45G>T
XM_011516185.2:c.2665G>T	XP_011514487.1:p.Gly889Cys
XM_011516186.3:c.*45G>T	XP_011514488.1:n.*45G>T
XM_017012195.1:c.2815G>T	XP_016867684.1:p.Gly939Cys
XM_017012196.1:c.2788G>T	XP_016867685.1:p.Gly930Cys
NM_000238.4:c.2965G>T MANE Select	NP_000229.1:p.Gly989Cys
NM_172057.3:c.1945G>T	NP_742054.1:p.Gly649Cys