Canonical Allele Identifier: CA007339

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200668
• ClinVar RCV Id: RCV000181991
• dbSNP Id: rs794728453
• MyVariant Identifiers: chr7:g.150644895del (hg19) ; chr7:g.150947807del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947808del , CM000669.2:g.150947808del	GRCh38
NC_000007.13:g.150644896del , CM000669.1:g.150644896del	GRCh37
NC_000007.12:g.150275829del	NCBI36
NG_008916.1:g.35120del , LRG_288:g.35120del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3597del
ENST00000262186.10:c.2764del MANE Select	ENSP00000262186.5:p.Arg922GlyfsTer?
ENST00000330883.9:c.1744del	ENSP00000328531.4:p.Arg582GlyfsTer?
ENST00000262186.9:c.2764del	ENSP00000262186.5:p.Arg922GlyfsTer?
ENST00000330883.8:c.1744del	ENSP00000328531.4:p.Arg582GlyfsTer?
NM_000238.3:c.2764del , LRG_288t1:c.2764del	NP_000229.1:p.Arg922GlyfsTer?
NM_172057.2:c.1744del , LRG_288t3:c.1744del	NP_742054.1:p.Arg582GlyfsTer?
XM_011516185.1:c.2464del	XP_011514487.1:p.Arg822GlyfsTer?
XM_011516186.1:c.2693-116del	XP_011514488.1:n.2693-116del
XM_011516185.2:c.2464del	XP_011514487.1:p.Arg822GlyfsTer?
XM_011516186.3:c.2693-116del	XP_011514488.1:n.2693-116del
XM_017012195.1:c.2614del	XP_016867684.1:p.Arg872GlyfsTer?
XM_017012196.1:c.2587del	XP_016867685.1:p.Arg863GlyfsTer?
NM_000238.4:c.2764del MANE Select	NP_000229.1:p.Arg922GlyfsTer?
NM_172057.3:c.1744del	NP_742054.1:p.Arg582GlyfsTer?