Canonical Allele Identifier: CA348971

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 219924
• ClinVar RCV Id: RCV000204772 ; RCV000413486 ; RCV000621802
• dbSNP Id: rs864622309
• MyVariant Identifiers: chr7:g.150644474del (hg19) ; chr7:g.150947386del (hg38)
• PubMed: PMID:10973849 ; PMID:19716085 ; PMID:24530480

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947386del , CM000669.2:g.150947386del	GRCh38
NC_000007.13:g.150644474del , CM000669.1:g.150644474del	GRCh37
NC_000007.12:g.150275407del	NCBI36
NG_008916.1:g.35541del , LRG_288:g.35541del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3927del
ENST00000262186.10:c.3094del MANE Select	ENSP00000262186.5:p.Arg1032GlyfsTer25
ENST00000330883.9:c.2074del	ENSP00000328531.4:p.Arg692GlyfsTer25
ENST00000262186.9:c.3094del	ENSP00000262186.5:p.Arg1032GlyfsTer25
ENST00000330883.8:c.2074del	ENSP00000328531.4:p.Arg692GlyfsTer25
NM_000238.3:c.3094del , LRG_288t1:c.3094del	NP_000229.1:p.Arg1032GlyfsTer25
NM_172057.2:c.2074del , LRG_288t3:c.2074del	NP_742054.1:p.Arg692GlyfsTer25
XM_011516185.1:c.2794del	XP_011514487.1:p.Arg932GlyfsTer25
XM_011516185.2:c.2794del	XP_011514487.1:p.Arg932GlyfsTer25
XM_017012195.1:c.2944del	XP_016867684.1:p.Arg982GlyfsTer25
XM_017012196.1:c.2917del	XP_016867685.1:p.Arg973GlyfsTer25
NM_000238.4:c.3094del MANE Select	NP_000229.1:p.Arg1032GlyfsTer25
NM_172057.3:c.2074del	NP_742054.1:p.Arg692GlyfsTer25