Canonical Allele Identifier: CA369855926

Gene: KCNH2

Linked Data

• dbSNP Id: rs2116947863
• gnomAD v3: 7-150950140-A-C
• gnomAD v4: 7-150950140-A-C
• MyVariant Identifiers: chr7:g.150647228A>C (hg19) ; chr7:g.150950140A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150950140A>C , CM000669.2:g.150950140A>C	GRCh38
NC_000007.13:g.150647228A>C , CM000669.1:g.150647228A>C	GRCh37
NC_000007.12:g.150278161A>C	NCBI36
NG_008916.1:g.32787T>G , LRG_288:g.32787T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1724T>G
ENST00000684241.1:n.3231+28T>G
ENST00000262186.10:c.2398+28T>G MANE Select	ENSP00000262186.5:n.2398+28T>G
ENST00000330883.9:c.1378+28T>G	ENSP00000328531.4:n.1378+28T>G
ENST00000262186.9:c.2398+28T>G	ENSP00000262186.5:n.2398+28T>G
ENST00000330883.8:c.1378+28T>G	ENSP00000328531.4:n.1378+28T>G
ENST00000430723.4:c.2078T>G	ENSP00000387657.4:p.Leu693Arg
ENST00000461280.1:n.1713T>G
ENST00000473610.5:n.2058T>G
ENST00000532957.5:n.2649T>G
NM_000238.3:c.2398+28T>G , LRG_288t1:c.2398+28T>G	NP_000229.1:n.2398+28T>G
NM_001204798.1:c.1406T>G	NP_001191727.1:p.Leu469Arg
NM_172056.2:c.2426T>G , LRG_288t2:c.2426T>G	NP_742053.1:p.Leu809Arg
NM_172057.2:c.1378+28T>G , LRG_288t3:c.1378+28T>G	NP_742054.1:n.1378+28T>G
XM_011516185.1:c.2098+28T>G	XP_011514487.1:n.2098+28T>G
XM_011516186.1:c.2398+28T>G	XP_011514488.1:n.2398+28T>G
XM_011516185.2:c.2098+28T>G	XP_011514487.1:n.2098+28T>G
XM_011516186.3:c.2398+28T>G	XP_011514488.1:n.2398+28T>G
XM_017012195.1:c.2248+28T>G	XP_016867684.1:n.2248+28T>G
XM_017012196.1:c.2221+28T>G	XP_016867685.1:n.2221+28T>G
NM_000238.4:c.2398+28T>G MANE Select	NP_000229.1:n.2398+28T>G
NM_001204798.2:c.1406T>G	NP_001191727.1:p.Leu469Arg
NM_172057.3:c.1378+28T>G	NP_742054.1:n.1378+28T>G