Canonical Allele Identifier: CA369853646

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1025677
• ClinVar RCV Id: RCV001326020
• dbSNP Id: rs1801005127
• COSMIC: COSM452614 ; COSM4814813
• MyVariant Identifiers: chr7:g.150645546C>T (hg19) ; chr7:g.150948458C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948458C>T , CM000669.2:g.150948458C>T	GRCh38
NC_000007.13:g.150645546C>T , CM000669.1:g.150645546C>T	GRCh37
NC_000007.12:g.150276479C>T	NCBI36
NG_008916.1:g.34469G>A , LRG_288:g.34469G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3511G>A
ENST00000262186.10:c.2678G>A MANE Select	ENSP00000262186.5:p.Arg893Lys
ENST00000330883.9:c.1658G>A	ENSP00000328531.4:p.Arg553Lys
ENST00000262186.9:c.2678G>A	ENSP00000262186.5:p.Arg893Lys
ENST00000330883.8:c.1658G>A	ENSP00000328531.4:p.Arg553Lys
NM_000238.3:c.2678G>A , LRG_288t1:c.2678G>A	NP_000229.1:p.Arg893Lys
NM_172057.2:c.1658G>A , LRG_288t3:c.1658G>A	NP_742054.1:p.Arg553Lys
XM_011516185.1:c.2378G>A	XP_011514487.1:p.Arg793Lys
XM_011516186.1:c.2678G>A	XP_011514488.1:p.Arg893Lys
XM_011516185.2:c.2378G>A	XP_011514487.1:p.Arg793Lys
XM_011516186.3:c.2678G>A	XP_011514488.1:p.Arg893Lys
XM_017012195.1:c.2528G>A	XP_016867684.1:p.Arg843Lys
XM_017012196.1:c.2501G>A	XP_016867685.1:p.Arg834Lys
NM_000238.4:c.2678G>A MANE Select	NP_000229.1:p.Arg893Lys
NM_172057.3:c.1658G>A	NP_742054.1:p.Arg553Lys