Canonical Allele Identifier: CA579075448

Gene: KCNH2

Linked Data

• dbSNP Id: rs1284610534
• gnomAD v2: 7-150647143-A-T
• gnomAD v3: 7-150950055-A-T
• gnomAD v4: 7-150950055-A-T
• MyVariant Identifiers: chr7:g.150647143A>T (hg19) ; chr7:g.150950055A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950055A>T , CM000669.2:g.150950055A>T	GRCh38
NC_000007.13:g.150647143A>T , CM000669.1:g.150647143A>T	GRCh37
NC_000007.12:g.150278076A>T	NCBI36
NG_008916.1:g.32872T>A , LRG_288:g.32872T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1809T>A
ENST00000684241.1:n.3231+113T>A
ENST00000262186.10:c.2398+113T>A MANE Select	ENSP00000262186.5:n.2398+113T>A
ENST00000330883.9:c.1378+113T>A	ENSP00000328531.4:n.1378+113T>A
ENST00000262186.9:c.2398+113T>A	ENSP00000262186.5:n.2398+113T>A
ENST00000330883.8:c.1378+113T>A	ENSP00000328531.4:n.1378+113T>A
ENST00000430723.4:c.2163T>A	ENSP00000387657.4:p.Gly721=
ENST00000461280.1:n.1798T>A
ENST00000473610.5:n.2143T>A
ENST00000532957.5:n.2734T>A
NM_000238.3:c.2398+113T>A , LRG_288t1:c.2398+113T>A	NP_000229.1:n.2398+113T>A
NM_001204798.1:c.1491T>A	NP_001191727.1:p.Gly497=
NM_172056.2:c.2511T>A , LRG_288t2:c.2511T>A	NP_742053.1:p.Gly837=
NM_172057.2:c.1378+113T>A , LRG_288t3:c.1378+113T>A	NP_742054.1:n.1378+113T>A
XM_011516185.1:c.2098+113T>A	XP_011514487.1:n.2098+113T>A
XM_011516186.1:c.2398+113T>A	XP_011514488.1:n.2398+113T>A
XM_011516185.2:c.2098+113T>A	XP_011514487.1:n.2098+113T>A
XM_011516186.3:c.2398+113T>A	XP_011514488.1:n.2398+113T>A
XM_017012195.1:c.2248+113T>A	XP_016867684.1:n.2248+113T>A
XM_017012196.1:c.2221+113T>A	XP_016867685.1:n.2221+113T>A
NM_000238.4:c.2398+113T>A MANE Select	NP_000229.1:n.2398+113T>A
NM_001204798.2:c.1491T>A	NP_001191727.1:p.Gly497=
NM_172057.3:c.1378+113T>A	NP_742054.1:n.1378+113T>A