Canonical Allele Identifier: CA008539

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200272
• ClinVar RCV Id: RCV000181750 ; RCV000268629 ; RCV000622136 ; RCV001095173 ; RCV000725132 ; RCV001842820
• dbSNP Id: rs144338227
• ExAC: 7:150674951 G / C
• gnomAD v2: 7-150674951-G-C
• gnomAD v3: 7-150977863-G-C
• gnomAD v4: 7-150977863-G-C
• MyVariant Identifiers: chr7:g.150674951G>C (hg19) ; chr7:g.150977863G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977863G>C , CM000669.2:g.150977863G>C	GRCh38
NC_000007.13:g.150674951G>C , CM000669.1:g.150674951G>C	GRCh37
NC_000007.12:g.150305884G>C	NCBI36
NG_008916.1:g.5064C>G , LRG_288:g.5064C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.51C>G MANE Select	ENSP00000262186.5:p.Thr17=
ENST00000262186.9:c.51C>G	ENSP00000262186.5:p.Thr17=
ENST00000430723.4:c.-127C>G	ENSP00000387657.4:n.-127C>G
ENST00000532957.5:n.274C>G
NM_000238.3:c.51C>G , LRG_288t1:c.51C>G	NP_000229.1:p.Thr17=
NM_172056.2:c.51C>G , LRG_288t2:c.51C>G	NP_742053.1:p.Thr17=
XM_011516186.1:c.51C>G	XP_011514488.1:p.Thr17=
XM_011516186.3:c.51C>G	XP_011514488.1:p.Thr17=
NM_000238.4:c.51C>G MANE Select	NP_000229.1:p.Thr17=