Canonical Allele Identifier: CA032017

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 628532
• ClinVar RCV Id: RCV001841892
• dbSNP Id: rs778124384
• ExAC: 7:150647134 A / G
• gnomAD v2: 7-150647134-A-G
• gnomAD v3: 7-150950046-A-G
• gnomAD v4: 7-150950046-A-G
• MyVariant Identifiers: chr7:g.150647134A>G (hg19) ; chr7:g.150950046A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950046A>G , CM000669.2:g.150950046A>G	GRCh38
NC_000007.13:g.150647134A>G , CM000669.1:g.150647134A>G	GRCh37
NC_000007.12:g.150278067A>G	NCBI36
NG_008916.1:g.32881T>C , LRG_288:g.32881T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1818T>C
ENST00000684241.1:n.3231+122T>C
ENST00000262186.10:c.2398+122T>C MANE Select	ENSP00000262186.5:n.2398+122T>C
ENST00000330883.9:c.1378+122T>C	ENSP00000328531.4:n.1378+122T>C
ENST00000262186.9:c.2398+122T>C	ENSP00000262186.5:n.2398+122T>C
ENST00000330883.8:c.1378+122T>C	ENSP00000328531.4:n.1378+122T>C
ENST00000430723.4:c.2172T>C	ENSP00000387657.4:p.Ala724=
ENST00000461280.1:n.1807T>C
ENST00000473610.5:n.2152T>C
ENST00000532957.5:n.2743T>C
NM_000238.3:c.2398+122T>C , LRG_288t1:c.2398+122T>C	NP_000229.1:n.2398+122T>C
NM_001204798.1:c.1500T>C	NP_001191727.1:p.Ala500=
NM_172056.2:c.2520T>C , LRG_288t2:c.2520T>C	NP_742053.1:p.Ala840=
NM_172057.2:c.1378+122T>C , LRG_288t3:c.1378+122T>C	NP_742054.1:n.1378+122T>C
XM_011516185.1:c.2098+122T>C	XP_011514487.1:n.2098+122T>C
XM_011516186.1:c.2398+122T>C	XP_011514488.1:n.2398+122T>C
XM_011516185.2:c.2098+122T>C	XP_011514487.1:n.2098+122T>C
XM_011516186.3:c.2398+122T>C	XP_011514488.1:n.2398+122T>C
XM_017012195.1:c.2248+122T>C	XP_016867684.1:n.2248+122T>C
XM_017012196.1:c.2221+122T>C	XP_016867685.1:n.2221+122T>C
NM_000238.4:c.2398+122T>C MANE Select	NP_000229.1:n.2398+122T>C
NM_001204798.2:c.1500T>C	NP_001191727.1:p.Ala500=
NM_172057.3:c.1378+122T>C	NP_742054.1:n.1378+122T>C