Canonical Allele Identifier: CA369855863

Gene: KCNH2

Linked Data

• dbSNP Id: rs1584850032
• gnomAD v4: 7-150950107-C-T
• MyVariant Identifiers: chr7:g.150647195C>T (hg19) ; chr7:g.150950107C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950107C>T , CM000669.2:g.150950107C>T	GRCh38
NC_000007.13:g.150647195C>T , CM000669.1:g.150647195C>T	GRCh37
NC_000007.12:g.150278128C>T	NCBI36
NG_008916.1:g.32820G>A , LRG_288:g.32820G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1757G>A
ENST00000684241.1:n.3231+61G>A
ENST00000262186.10:c.2398+61G>A MANE Select	ENSP00000262186.5:n.2398+61G>A
ENST00000330883.9:c.1378+61G>A	ENSP00000328531.4:n.1378+61G>A
ENST00000262186.9:c.2398+61G>A	ENSP00000262186.5:n.2398+61G>A
ENST00000330883.8:c.1378+61G>A	ENSP00000328531.4:n.1378+61G>A
ENST00000430723.4:c.2111G>A	ENSP00000387657.4:p.Ser704Asn
ENST00000461280.1:n.1746G>A
ENST00000473610.5:n.2091G>A
ENST00000532957.5:n.2682G>A
NM_000238.3:c.2398+61G>A , LRG_288t1:c.2398+61G>A	NP_000229.1:n.2398+61G>A
NM_001204798.1:c.1439G>A	NP_001191727.1:p.Ser480Asn
NM_172056.2:c.2459G>A , LRG_288t2:c.2459G>A	NP_742053.1:p.Ser820Asn
NM_172057.2:c.1378+61G>A , LRG_288t3:c.1378+61G>A	NP_742054.1:n.1378+61G>A
XM_011516185.1:c.2098+61G>A	XP_011514487.1:n.2098+61G>A
XM_011516186.1:c.2398+61G>A	XP_011514488.1:n.2398+61G>A
XM_011516185.2:c.2098+61G>A	XP_011514487.1:n.2098+61G>A
XM_011516186.3:c.2398+61G>A	XP_011514488.1:n.2398+61G>A
XM_017012195.1:c.2248+61G>A	XP_016867684.1:n.2248+61G>A
XM_017012196.1:c.2221+61G>A	XP_016867685.1:n.2221+61G>A
NM_000238.4:c.2398+61G>A MANE Select	NP_000229.1:n.2398+61G>A
NM_001204798.2:c.1439G>A	NP_001191727.1:p.Ser480Asn
NM_172057.3:c.1378+61G>A	NP_742054.1:n.1378+61G>A