Canonical Allele Identifier: CA007519

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200797
• ClinVar RCV Id: RCV000182062
• dbSNP Id: rs794728503
• MyVariant Identifiers: chr7:g.150644802del (hg19) ; chr7:g.150947714del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947718del , CM000669.2:g.150947718del	GRCh38
NC_000007.13:g.150644806del , CM000669.1:g.150644806del	GRCh37
NC_000007.12:g.150275739del	NCBI36
NG_008916.1:g.35213del , LRG_288:g.35213del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3690del
ENST00000262186.10:c.2857del MANE Select	ENSP00000262186.5:p.Leu953SerfsTer21
ENST00000330883.9:c.1837del	ENSP00000328531.4:p.Leu613SerfsTer21
ENST00000262186.9:c.2857del	ENSP00000262186.5:p.Leu953SerfsTer21
ENST00000330883.8:c.1837del	ENSP00000328531.4:p.Leu613SerfsTer21
NM_000238.3:c.2857del , LRG_288t1:c.2857del	NP_000229.1:p.Leu953SerfsTer21
NM_172057.2:c.1837del , LRG_288t3:c.1837del	NP_742054.1:p.Leu613SerfsTer21
XM_011516185.1:c.2557del	XP_011514487.1:p.Leu853SerfsTer21
XM_011516186.1:c.2693-23del	XP_011514488.1:n.2693-23del
XM_011516185.2:c.2557del	XP_011514487.1:p.Leu853SerfsTer21
XM_011516186.3:c.2693-23del	XP_011514488.1:n.2693-23del
XM_017012195.1:c.2707del	XP_016867684.1:p.Leu903SerfsTer21
XM_017012196.1:c.2680del	XP_016867685.1:p.Leu894SerfsTer21
NM_000238.4:c.2857del MANE Select	NP_000229.1:p.Leu953SerfsTer21
NM_172057.3:c.1837del	NP_742054.1:p.Leu613SerfsTer21