Canonical Allele Identifier: CA369866679

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1478393
• ClinVar RCV Id: RCV001974163
• dbSNP Id: rs2117072638
• MyVariant Identifiers: chr7:g.150674952G>A (hg19) ; chr7:g.150977864G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977864G>A , CM000669.2:g.150977864G>A	GRCh38
NC_000007.13:g.150674952G>A , CM000669.1:g.150674952G>A	GRCh37
NC_000007.12:g.150305885G>A	NCBI36
NG_008916.1:g.5063C>T , LRG_288:g.5063C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.50C>T MANE Select	ENSP00000262186.5:p.Thr17Ile
ENST00000262186.9:c.50C>T	ENSP00000262186.5:p.Thr17Ile
ENST00000430723.4:c.-128C>T	ENSP00000387657.4:n.-128C>T
ENST00000532957.5:n.273C>T
NM_000238.3:c.50C>T , LRG_288t1:c.50C>T	NP_000229.1:p.Thr17Ile
NM_172056.2:c.50C>T , LRG_288t2:c.50C>T	NP_742053.1:p.Thr17Ile
XM_011516186.1:c.50C>T	XP_011514488.1:p.Thr17Ile
XM_011516186.3:c.50C>T	XP_011514488.1:p.Thr17Ile
NM_000238.4:c.50C>T MANE Select	NP_000229.1:p.Thr17Ile