Canonical Allele Identifier: CA369855266

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150646090C>G (hg19) ; chr7:g.150949002C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949002C>G , CM000669.2:g.150949002C>G	GRCh38
NC_000007.13:g.150646090C>G , CM000669.1:g.150646090C>G	GRCh37
NC_000007.12:g.150277023C>G	NCBI36
NG_008916.1:g.33925G>C , LRG_288:g.33925G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3279G>C
ENST00000262186.10:c.2446G>C MANE Select	ENSP00000262186.5:p.Gly816Arg
ENST00000330883.9:c.1426G>C	ENSP00000328531.4:p.Gly476Arg
ENST00000262186.9:c.2446G>C	ENSP00000262186.5:p.Gly816Arg
ENST00000330883.8:c.1426G>C	ENSP00000328531.4:p.Gly476Arg
NM_000238.3:c.2446G>C , LRG_288t1:c.2446G>C	NP_000229.1:p.Gly816Arg
NM_172057.2:c.1426G>C , LRG_288t3:c.1426G>C	NP_742054.1:p.Gly476Arg
XM_011516185.1:c.2146G>C	XP_011514487.1:p.Gly716Arg
XM_011516186.1:c.2446G>C	XP_011514488.1:p.Gly816Arg
XM_011516185.2:c.2146G>C	XP_011514487.1:p.Gly716Arg
XM_011516186.3:c.2446G>C	XP_011514488.1:p.Gly816Arg
XM_017012195.1:c.2296G>C	XP_016867684.1:p.Gly766Arg
XM_017012196.1:c.2269G>C	XP_016867685.1:p.Gly757Arg
NM_000238.4:c.2446G>C MANE Select	NP_000229.1:p.Gly816Arg
NM_172057.3:c.1426G>C	NP_742054.1:p.Gly476Arg