Canonical Allele Identifier: CA007369

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67437
• ClinVar RCV Id: RCV000058163 ; RCV000181891 ; RCV000251484 ; RCV000817376 ; RCV000987999 ; RCV001841724
• dbSNP Id: rs199473009
• ExAC: 7:150644888 C / T
• gnomAD v2: 7-150644888-C-T
• gnomAD v3: 7-150947800-C-T
• gnomAD v4: 7-150947800-C-T
• MyVariant Identifiers: chr7:g.150644888C>T (hg19) ; chr7:g.150947800C>T (hg38)
• PubMed: PMID:19716085 ; PMID:22581653 ; PMID:23338923 ; PMID:26704558 ; PMID:26746457

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947800C>T , CM000669.2:g.150947800C>T	GRCh38
NC_000007.13:g.150644888C>T , CM000669.1:g.150644888C>T	GRCh37
NC_000007.12:g.150275821C>T	NCBI36
NG_008916.1:g.35127G>A , LRG_288:g.35127G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3604G>A
ENST00000262186.10:c.2771G>A MANE Select	ENSP00000262186.5:p.Gly924Glu
ENST00000330883.9:c.1751G>A	ENSP00000328531.4:p.Gly584Glu
ENST00000262186.9:c.2771G>A	ENSP00000262186.5:p.Gly924Glu
ENST00000330883.8:c.1751G>A	ENSP00000328531.4:p.Gly584Glu
NM_000238.3:c.2771G>A , LRG_288t1:c.2771G>A	NP_000229.1:p.Gly924Glu
NM_172057.2:c.1751G>A , LRG_288t3:c.1751G>A	NP_742054.1:p.Gly584Glu
XM_011516185.1:c.2471G>A	XP_011514487.1:p.Gly824Glu
XM_011516186.1:c.2693-109G>A	XP_011514488.1:n.2693-109G>A
XM_011516185.2:c.2471G>A	XP_011514487.1:p.Gly824Glu
XM_011516186.3:c.2693-109G>A	XP_011514488.1:n.2693-109G>A
XM_017012195.1:c.2621G>A	XP_016867684.1:p.Gly874Glu
XM_017012196.1:c.2594G>A	XP_016867685.1:p.Gly865Glu
NM_000238.4:c.2771G>A MANE Select	NP_000229.1:p.Gly924Glu
NM_172057.3:c.1751G>A	NP_742054.1:p.Gly584Glu