Canonical Allele Identifier: CA458646104

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 924454
• ClinVar RCV Id: RCV001843260 ; RCV002560877
• dbSNP Id: rs1801415043
• MyVariant Identifiers: chr7:g.150654574C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957486C>T , CM000669.2:g.150957486C>T	GRCh38
NC_000007.13:g.150654574C>T , CM000669.1:g.150654574C>T	GRCh37
NC_000007.12:g.150285507C>T	NCBI36
NG_008916.1:g.25441G>A , LRG_288:g.25441G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1766G>A
ENST00000262186.10:c.933G>A MANE Select	ENSP00000262186.5:p.Leu311=
ENST00000262186.9:c.933G>A	ENSP00000262186.5:p.Leu311=
ENST00000430723.4:c.585G>A	ENSP00000387657.4:p.Leu195=
ENST00000532957.5:n.1156G>A
NM_000238.3:c.933G>A , LRG_288t1:c.933G>A	NP_000229.1:p.Leu311=
NM_172056.2:c.933G>A , LRG_288t2:c.933G>A	NP_742053.1:p.Leu311=
XM_011516185.1:c.633G>A	XP_011514487.1:p.Leu211=
XM_011516186.1:c.933G>A	XP_011514488.1:p.Leu311=
XM_011516185.2:c.633G>A	XP_011514487.1:p.Leu211=
XM_011516186.3:c.933G>A	XP_011514488.1:p.Leu311=
XM_017012195.1:c.783G>A	XP_016867684.1:p.Leu261=
XM_017012196.1:c.756G>A	XP_016867685.1:p.Leu252=
NM_000238.4:c.933G>A MANE Select	NP_000229.1:p.Leu311=