Canonical Allele Identifier: CA369857582

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1463165
• ClinVar RCV Id: RCV003224598 ; RCV001997631
• dbSNP Id: rs2116955179
• gnomAD v4: 7-150951016-T-C
• MyVariant Identifiers: chr7:g.150648104T>C (hg19) ; chr7:g.150951016T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951016T>C , CM000669.2:g.150951016T>C	GRCh38
NC_000007.13:g.150648104T>C , CM000669.1:g.150648104T>C	GRCh37
NC_000007.12:g.150279037T>C	NCBI36
NG_008916.1:g.31911A>G , LRG_288:g.31911A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1348A>G
ENST00000683359.1:n.174A>G
ENST00000684241.1:n.2883A>G
ENST00000262186.10:c.2050A>G MANE Select	ENSP00000262186.5:p.Ile684Val
ENST00000330883.9:c.1030A>G	ENSP00000328531.4:p.Ile344Val
ENST00000262186.9:c.2050A>G	ENSP00000262186.5:p.Ile684Val
ENST00000330883.8:c.1030A>G	ENSP00000328531.4:p.Ile344Val
ENST00000430723.4:c.1702A>G	ENSP00000387657.4:p.Ile568Val
ENST00000461280.1:n.1337A>G
ENST00000473610.5:n.1682A>G
ENST00000532957.5:n.2273A>G
NM_000238.3:c.2050A>G , LRG_288t1:c.2050A>G	NP_000229.1:p.Ile684Val
NM_001204798.1:c.1030A>G	NP_001191727.1:p.Ile344Val
NM_172056.2:c.2050A>G , LRG_288t2:c.2050A>G	NP_742053.1:p.Ile684Val
NM_172057.2:c.1030A>G , LRG_288t3:c.1030A>G	NP_742054.1:p.Ile344Val
XM_011516185.1:c.1750A>G	XP_011514487.1:p.Ile584Val
XM_011516186.1:c.2050A>G	XP_011514488.1:p.Ile684Val
XM_011516185.2:c.1750A>G	XP_011514487.1:p.Ile584Val
XM_011516186.3:c.2050A>G	XP_011514488.1:p.Ile684Val
XM_017012195.1:c.1900A>G	XP_016867684.1:p.Ile634Val
XM_017012196.1:c.1873A>G	XP_016867685.1:p.Ile625Val
NM_000238.4:c.2050A>G MANE Select	NP_000229.1:p.Ile684Val
NM_001204798.2:c.1030A>G	NP_001191727.1:p.Ile344Val
NM_172057.3:c.1030A>G	NP_742054.1:p.Ile344Val