Canonical Allele Identifier: CA369857592

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 487626
• ClinVar RCV Id: RCV000656204 ; RCV000762486 ; RCV001841485 ; RCV002420549 ; RCV004001214
• dbSNP Id: rs1338579153
• gnomAD v3: 7-150951020-C-G
• gnomAD v4: 7-150951020-C-G
• MyVariant Identifiers: chr7:g.150648108C>G (hg19) ; chr7:g.150951020C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951020C>G , CM000669.2:g.150951020C>G	GRCh38
NC_000007.13:g.150648108C>G , CM000669.1:g.150648108C>G	GRCh37
NC_000007.12:g.150279041C>G	NCBI36
NG_008916.1:g.31907G>C , LRG_288:g.31907G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461280.2:n.1344G>C
ENST00000683359.1:n.170G>C
ENST00000684241.1:n.2879G>C
ENST00000262186.10:c.2046G>C MANE Select	ENSP00000262186.5:p.Glu682Asp
ENST00000330883.9:c.1026G>C	ENSP00000328531.4:p.Glu342Asp
ENST00000262186.9:c.2046G>C	ENSP00000262186.5:p.Glu682Asp
ENST00000330883.8:c.1026G>C	ENSP00000328531.4:p.Glu342Asp
ENST00000430723.4:c.1698G>C	ENSP00000387657.4:p.Glu566Asp
ENST00000461280.1:n.1333G>C
ENST00000473610.5:n.1678G>C
ENST00000532957.5:n.2269G>C
NM_000238.3:c.2046G>C , LRG_288t1:c.2046G>C	NP_000229.1:p.Glu682Asp
NM_001204798.1:c.1026G>C	NP_001191727.1:p.Glu342Asp
NM_172056.2:c.2046G>C , LRG_288t2:c.2046G>C	NP_742053.1:p.Glu682Asp
NM_172057.2:c.1026G>C , LRG_288t3:c.1026G>C	NP_742054.1:p.Glu342Asp
XM_011516185.1:c.1746G>C	XP_011514487.1:p.Glu582Asp
XM_011516186.1:c.2046G>C	XP_011514488.1:p.Glu682Asp
XM_011516185.2:c.1746G>C	XP_011514487.1:p.Glu582Asp
XM_011516186.3:c.2046G>C	XP_011514488.1:p.Glu682Asp
XM_017012195.1:c.1896G>C	XP_016867684.1:p.Glu632Asp
XM_017012196.1:c.1869G>C	XP_016867685.1:p.Glu623Asp
NM_000238.4:c.2046G>C MANE Select	NP_000229.1:p.Glu682Asp
NM_001204798.2:c.1026G>C	NP_001191727.1:p.Glu342Asp
NM_172057.3:c.1026G>C	NP_742054.1:p.Glu342Asp