Canonical Allele Identifier: CA369852999

Gene: KCNH2

Linked Data

• dbSNP Id: rs1341047988
• gnomAD v2: 7-150644591-C-A
• gnomAD v4: 7-150947503-C-A
• MyVariant Identifiers: chr7:g.150644591C>A (hg19) ; chr7:g.150947503C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947503C>A , CM000669.2:g.150947503C>A	GRCh38
NC_000007.13:g.150644591C>A , CM000669.1:g.150644591C>A	GRCh37
NC_000007.12:g.150275524C>A	NCBI36
NG_008916.1:g.35424G>T , LRG_288:g.35424G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3810G>T
ENST00000262186.10:c.2977G>T MANE Select	ENSP00000262186.5:p.Gly993Ter
ENST00000330883.9:c.1957G>T	ENSP00000328531.4:p.Gly653Ter
ENST00000262186.9:c.2977G>T	ENSP00000262186.5:p.Gly993Ter
ENST00000330883.8:c.1957G>T	ENSP00000328531.4:p.Gly653Ter
NM_000238.3:c.2977G>T , LRG_288t1:c.2977G>T	NP_000229.1:p.Gly993Ter
NM_172057.2:c.1957G>T , LRG_288t3:c.1957G>T	NP_742054.1:p.Gly653Ter
XM_011516185.1:c.2677G>T	XP_011514487.1:p.Gly893Ter
XM_011516186.1:c.*57G>T	XP_011514488.1:n.*57G>T
XM_011516185.2:c.2677G>T	XP_011514487.1:p.Gly893Ter
XM_011516186.3:c.*57G>T	XP_011514488.1:n.*57G>T
XM_017012195.1:c.2827G>T	XP_016867684.1:p.Gly943Ter
XM_017012196.1:c.2800G>T	XP_016867685.1:p.Gly934Ter
NM_000238.4:c.2977G>T MANE Select	NP_000229.1:p.Gly993Ter
NM_172057.3:c.1957G>T	NP_742054.1:p.Gly653Ter