Canonical Allele Identifier: CA369863897

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1445494
• ClinVar RCV Id: RCV001985072
• dbSNP Id: rs2117012538
• MyVariant Identifiers: chr7:g.150656809C>T (hg19) ; chr7:g.150959721C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959721C>T , CM000669.2:g.150959721C>T	GRCh38
NC_000007.13:g.150656809C>T , CM000669.1:g.150656809C>T	GRCh37
NC_000007.12:g.150287742C>T	NCBI36
NG_008916.1:g.23206G>A , LRG_288:g.23206G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1156G>A
ENST00000262186.10:c.323G>A MANE Select	ENSP00000262186.5:p.Cys108Tyr
ENST00000262186.9:c.323G>A	ENSP00000262186.5:p.Cys108Tyr
ENST00000430723.4:c.146G>A	ENSP00000387657.4:p.Cys49Tyr
ENST00000532957.5:n.546G>A
NM_000238.3:c.323G>A , LRG_288t1:c.323G>A	NP_000229.1:p.Cys108Tyr
NM_172056.2:c.323G>A , LRG_288t2:c.323G>A	NP_742053.1:p.Cys108Tyr
XM_011516185.1:c.23G>A	XP_011514487.1:p.Cys8Tyr
XM_011516186.1:c.323G>A	XP_011514488.1:p.Cys108Tyr
XM_011516185.2:c.23G>A	XP_011514487.1:p.Cys8Tyr
XM_011516186.3:c.323G>A	XP_011514488.1:p.Cys108Tyr
XM_017012195.1:c.173G>A	XP_016867684.1:p.Cys58Tyr
XM_017012196.1:c.146G>A	XP_016867685.1:p.Cys49Tyr
NM_000238.4:c.323G>A MANE Select	NP_000229.1:p.Cys108Tyr