Canonical Allele Identifier: CA008062

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67475
• ClinVar RCV Id: RCV000058204 ; RCV000181743 ; RCV000246544 ; RCV000398697 ; RCV001841747
• dbSNP Id: rs41307270
• ExAC: 7:150644131 C / T
• gnomAD v2: 7-150644131-C-T
• gnomAD v3: 7-150947043-C-T
• gnomAD v4: 7-150947043-C-T
• MyVariant Identifiers: chr7:g.150644131C>T (hg19) ; chr7:g.150947043C>T (hg38)
• PubMed: PMID:16487223 ; PMID:22581653 ; PMID:25351510

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947043C>T , CM000669.2:g.150947043C>T	GRCh38
NC_000007.13:g.150644131C>T , CM000669.1:g.150644131C>T	GRCh37
NC_000007.12:g.150275064C>T	NCBI36
NG_008916.1:g.35884G>A , LRG_288:g.35884G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3997G>A
ENST00000262186.10:c.3164G>A MANE Select	ENSP00000262186.5:p.Arg1055Gln
ENST00000330883.9:c.2144G>A	ENSP00000328531.4:p.Arg715Gln
ENST00000262186.9:c.3164G>A	ENSP00000262186.5:p.Arg1055Gln
ENST00000330883.8:c.2144G>A	ENSP00000328531.4:p.Arg715Gln
NM_000238.3:c.3164G>A , LRG_288t1:c.3164G>A	NP_000229.1:p.Arg1055Gln
NM_172057.2:c.2144G>A , LRG_288t3:c.2144G>A	NP_742054.1:p.Arg715Gln
XM_011516185.1:c.2864G>A	XP_011514487.1:p.Arg955Gln
XM_011516185.2:c.2864G>A	XP_011514487.1:p.Arg955Gln
XM_017012195.1:c.3014G>A	XP_016867684.1:p.Arg1005Gln
XM_017012196.1:c.2987G>A	XP_016867685.1:p.Arg996Gln
NM_000238.4:c.3164G>A MANE Select	NP_000229.1:p.Arg1055Gln
NM_172057.3:c.2144G>A	NP_742054.1:p.Arg715Gln