Canonical Allele Identifier: CA369862642

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1427253
• ClinVar RCV Id: RCV001945873
• dbSNP Id: rs2117004339
• MyVariant Identifiers: chr7:g.150655315A>T (hg19) ; chr7:g.150958227A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958227A>T , CM000669.2:g.150958227A>T	GRCh38
NC_000007.13:g.150655315A>T , CM000669.1:g.150655315A>T	GRCh37
NC_000007.12:g.150286248A>T	NCBI36
NG_008916.1:g.24700T>A , LRG_288:g.24700T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1581T>A
ENST00000262186.10:c.748T>A MANE Select	ENSP00000262186.5:p.Ser250Thr
ENST00000262186.9:c.748T>A	ENSP00000262186.5:p.Ser250Thr
ENST00000430723.4:c.400T>A	ENSP00000387657.4:p.Ser134Thr
ENST00000532957.5:n.971T>A
NM_000238.3:c.748T>A , LRG_288t1:c.748T>A	NP_000229.1:p.Ser250Thr
NM_172056.2:c.748T>A , LRG_288t2:c.748T>A	NP_742053.1:p.Ser250Thr
XM_011516185.1:c.448T>A	XP_011514487.1:p.Ser150Thr
XM_011516186.1:c.748T>A	XP_011514488.1:p.Ser250Thr
XM_011516185.2:c.448T>A	XP_011514487.1:p.Ser150Thr
XM_011516186.3:c.748T>A	XP_011514488.1:p.Ser250Thr
XM_017012195.1:c.598T>A	XP_016867684.1:p.Ser200Thr
XM_017012196.1:c.571T>A	XP_016867685.1:p.Ser191Thr
NM_000238.4:c.748T>A MANE Select	NP_000229.1:p.Ser250Thr