Canonical Allele Identifier: CA033981

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1054268
• ClinVar RCV Id: RCV001362747 ; RCV001564940 ; RCV001841215 ; RCV002499735
• dbSNP Id: rs774216337
• ExAC: 7:150645549 C / T
• gnomAD v2: 7-150645549-C-T
• gnomAD v3: 7-150948461-C-T
• gnomAD v4: 7-150948461-C-T
• MyVariant Identifiers: chr7:g.150645549C>T (hg19) ; chr7:g.150948461C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948461C>T , CM000669.2:g.150948461C>T	GRCh38
NC_000007.13:g.150645549C>T , CM000669.1:g.150645549C>T	GRCh37
NC_000007.12:g.150276482C>T	NCBI36
NG_008916.1:g.34466G>A , LRG_288:g.34466G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3508G>A
ENST00000262186.10:c.2675G>A MANE Select	ENSP00000262186.5:p.Arg892His
ENST00000330883.9:c.1655G>A	ENSP00000328531.4:p.Arg552His
ENST00000262186.9:c.2675G>A	ENSP00000262186.5:p.Arg892His
ENST00000330883.8:c.1655G>A	ENSP00000328531.4:p.Arg552His
NM_000238.3:c.2675G>A , LRG_288t1:c.2675G>A	NP_000229.1:p.Arg892His
NM_172057.2:c.1655G>A , LRG_288t3:c.1655G>A	NP_742054.1:p.Arg552His
XM_011516185.1:c.2375G>A	XP_011514487.1:p.Arg792His
XM_011516186.1:c.2675G>A	XP_011514488.1:p.Arg892His
XM_011516185.2:c.2375G>A	XP_011514487.1:p.Arg792His
XM_011516186.3:c.2675G>A	XP_011514488.1:p.Arg892His
XM_017012195.1:c.2525G>A	XP_016867684.1:p.Arg842His
XM_017012196.1:c.2498G>A	XP_016867685.1:p.Arg833His
NM_000238.4:c.2675G>A MANE Select	NP_000229.1:p.Arg892His
NM_172057.3:c.1655G>A	NP_742054.1:p.Arg552His