Canonical Allele Identifier: CA369857762

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150951108-G-T
• MyVariant Identifiers: chr7:g.150648196G>T (hg19) ; chr7:g.150951108G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951108G>T , CM000669.2:g.150951108G>T	GRCh38
NC_000007.13:g.150648196G>T , CM000669.1:g.150648196G>T	GRCh37
NC_000007.12:g.150279129G>T	NCBI36
NG_008916.1:g.31819C>A , LRG_288:g.31819C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1256C>A
ENST00000683359.1:n.82C>A
ENST00000684241.1:n.2791C>A
ENST00000262186.10:c.1958C>A MANE Select	ENSP00000262186.5:p.Ala653Asp
ENST00000330883.9:c.938C>A	ENSP00000328531.4:p.Ala313Asp
ENST00000262186.9:c.1958C>A	ENSP00000262186.5:p.Ala653Asp
ENST00000330883.8:c.938C>A	ENSP00000328531.4:p.Ala313Asp
ENST00000430723.4:c.1610C>A	ENSP00000387657.4:p.Ala537Asp
ENST00000461280.1:n.1245C>A
ENST00000473610.5:n.1590C>A
ENST00000532957.5:n.2181C>A
NM_000238.3:c.1958C>A , LRG_288t1:c.1958C>A	NP_000229.1:p.Ala653Asp
NM_001204798.1:c.938C>A	NP_001191727.1:p.Ala313Asp
NM_172056.2:c.1958C>A , LRG_288t2:c.1958C>A	NP_742053.1:p.Ala653Asp
NM_172057.2:c.938C>A , LRG_288t3:c.938C>A	NP_742054.1:p.Ala313Asp
XM_011516185.1:c.1658C>A	XP_011514487.1:p.Ala553Asp
XM_011516186.1:c.1958C>A	XP_011514488.1:p.Ala653Asp
XM_011516185.2:c.1658C>A	XP_011514487.1:p.Ala553Asp
XM_011516186.3:c.1958C>A	XP_011514488.1:p.Ala653Asp
XM_017012195.1:c.1808C>A	XP_016867684.1:p.Ala603Asp
XM_017012196.1:c.1781C>A	XP_016867685.1:p.Ala594Asp
NM_000238.4:c.1958C>A MANE Select	NP_000229.1:p.Ala653Asp
NM_001204798.2:c.938C>A	NP_001191727.1:p.Ala313Asp
NM_172057.3:c.938C>A	NP_742054.1:p.Ala313Asp