Canonical Allele Identifier: CA028442

Gene: KCNH2

Linked Data

• dbSNP Id: rs757838122
• ExAC: 7:150649491 C / A
• gnomAD v2: 7-150649491-C-A
• gnomAD v3: 7-150952403-C-A
• gnomAD v4: 7-150952403-C-A
• MyVariant Identifiers: chr7:g.150649491C>A (hg19) ; chr7:g.150952403C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952403C>A , CM000669.2:g.150952403C>A	GRCh38
NC_000007.13:g.150649491C>A , CM000669.1:g.150649491C>A	GRCh37
NC_000007.12:g.150280424C>A	NCBI36
NG_008916.1:g.30524G>T , LRG_288:g.30524G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.855+22G>T
ENST00000684116.1:n.450+22G>T
ENST00000684241.1:n.2390+22G>T
ENST00000262186.10:c.1557+22G>T MANE Select	ENSP00000262186.5:n.1557+22G>T
ENST00000330883.9:c.537+22G>T	ENSP00000328531.4:n.537+22G>T
ENST00000262186.9:c.1557+22G>T	ENSP00000262186.5:n.1557+22G>T
ENST00000330883.8:c.537+22G>T	ENSP00000328531.4:n.537+22G>T
ENST00000430723.4:c.1209+22G>T	ENSP00000387657.4:n.1209+22G>T
ENST00000461280.1:n.844+22G>T
ENST00000473610.5:n.862+22G>T
ENST00000532957.5:n.1780+22G>T
NM_000238.3:c.1557+22G>T , LRG_288t1:c.1557+22G>T	NP_000229.1:n.1557+22G>T
NM_001204798.1:c.537+22G>T	NP_001191727.1:n.537+22G>T
NM_172056.2:c.1557+22G>T , LRG_288t2:c.1557+22G>T	NP_742053.1:n.1557+22G>T
NM_172057.2:c.537+22G>T , LRG_288t3:c.537+22G>T	NP_742054.1:n.537+22G>T
XM_011516185.1:c.1257+22G>T	XP_011514487.1:n.1257+22G>T
XM_011516186.1:c.1557+22G>T	XP_011514488.1:n.1557+22G>T
XM_011516185.2:c.1257+22G>T	XP_011514487.1:n.1257+22G>T
XM_011516186.3:c.1557+22G>T	XP_011514488.1:n.1557+22G>T
XM_017012195.1:c.1407+22G>T	XP_016867684.1:n.1407+22G>T
XM_017012196.1:c.1380+22G>T	XP_016867685.1:n.1380+22G>T
NM_000238.4:c.1557+22G>T MANE Select	NP_000229.1:n.1557+22G>T
NM_001204798.2:c.537+22G>T	NP_001191727.1:n.537+22G>T
NM_172057.3:c.537+22G>T	NP_742054.1:n.537+22G>T