Canonical Allele Identifier: CA032030

Gene: KCNH2

Linked Data

• dbSNP Id: rs758591341
• ExAC: 7:150647121 G / C
• gnomAD v2: 7-150647121-G-C
• gnomAD v4: 7-150950033-G-C
• MyVariant Identifiers: chr7:g.150647121G>C (hg19) ; chr7:g.150950033G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950033G>C , CM000669.2:g.150950033G>C	GRCh38
NC_000007.13:g.150647121G>C , CM000669.1:g.150647121G>C	GRCh37
NC_000007.12:g.150278054G>C	NCBI36
NG_008916.1:g.32894C>G , LRG_288:g.32894C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1831C>G
ENST00000684241.1:n.3231+135C>G
ENST00000262186.10:c.2398+135C>G MANE Select	ENSP00000262186.5:n.2398+135C>G
ENST00000330883.9:c.1378+135C>G	ENSP00000328531.4:n.1378+135C>G
ENST00000262186.9:c.2398+135C>G	ENSP00000262186.5:n.2398+135C>G
ENST00000330883.8:c.1378+135C>G	ENSP00000328531.4:n.1378+135C>G
ENST00000430723.4:c.2185C>G	ENSP00000387657.4:p.Leu729Val
ENST00000461280.1:n.1820C>G
ENST00000473610.5:n.2165C>G
ENST00000532957.5:n.2756C>G
NM_000238.3:c.2398+135C>G , LRG_288t1:c.2398+135C>G	NP_000229.1:n.2398+135C>G
NM_001204798.1:c.1513C>G	NP_001191727.1:p.Leu505Val
NM_172056.2:c.2533C>G , LRG_288t2:c.2533C>G	NP_742053.1:p.Leu845Val
NM_172057.2:c.1378+135C>G , LRG_288t3:c.1378+135C>G	NP_742054.1:n.1378+135C>G
XM_011516185.1:c.2098+135C>G	XP_011514487.1:n.2098+135C>G
XM_011516186.1:c.2398+135C>G	XP_011514488.1:n.2398+135C>G
XM_011516185.2:c.2098+135C>G	XP_011514487.1:n.2098+135C>G
XM_011516186.3:c.2398+135C>G	XP_011514488.1:n.2398+135C>G
XM_017012195.1:c.2248+135C>G	XP_016867684.1:n.2248+135C>G
XM_017012196.1:c.2221+135C>G	XP_016867685.1:n.2221+135C>G
NM_000238.4:c.2398+135C>G MANE Select	NP_000229.1:n.2398+135C>G
NM_001204798.2:c.1513C>G	NP_001191727.1:p.Leu505Val
NM_172057.3:c.1378+135C>G	NP_742054.1:n.1378+135C>G