Canonical Allele Identifier: CA006888

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67407
• ClinVar RCV Id: RCV000058131 ; RCV000181873 ; RCV000469039 ; RCV000677334 ; RCV001841710 ; RCV002433554
• dbSNP Id: rs199473004
• gnomAD v4: 7-150948938-T-C
• MyVariant Identifiers: chr7:g.150646026T>C (hg19) ; chr7:g.150948938T>C (hg38)
• PubMed: PMID:15840476 ; PMID:15851119 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948938T>C , CM000669.2:g.150948938T>C	GRCh38
NC_000007.13:g.150646026T>C , CM000669.1:g.150646026T>C	GRCh37
NC_000007.12:g.150276959T>C	NCBI36
NG_008916.1:g.33989A>G , LRG_288:g.33989A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3343A>G
ENST00000262186.10:c.2510A>G MANE Select	ENSP00000262186.5:p.Asp837Gly
ENST00000330883.9:c.1490A>G	ENSP00000328531.4:p.Asp497Gly
ENST00000262186.9:c.2510A>G	ENSP00000262186.5:p.Asp837Gly
ENST00000330883.8:c.1490A>G	ENSP00000328531.4:p.Asp497Gly
NM_000238.3:c.2510A>G , LRG_288t1:c.2510A>G	NP_000229.1:p.Asp837Gly
NM_172057.2:c.1490A>G , LRG_288t3:c.1490A>G	NP_742054.1:p.Asp497Gly
XM_011516185.1:c.2210A>G	XP_011514487.1:p.Asp737Gly
XM_011516186.1:c.2510A>G	XP_011514488.1:p.Asp837Gly
XM_011516185.2:c.2210A>G	XP_011514487.1:p.Asp737Gly
XM_011516186.3:c.2510A>G	XP_011514488.1:p.Asp837Gly
XM_017012195.1:c.2360A>G	XP_016867684.1:p.Asp787Gly
XM_017012196.1:c.2333A>G	XP_016867685.1:p.Asp778Gly
NM_000238.4:c.2510A>G MANE Select	NP_000229.1:p.Asp837Gly
NM_172057.3:c.1490A>G	NP_742054.1:p.Asp497Gly