Canonical Allele Identifier: CA007033

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200247
• ClinVar RCV Id: RCV000181736 ; RCV000631791 ; RCV001842810 ; RCV002433790
• dbSNP Id: rs199828796
• ExAC: 7:150645617 C / T
• gnomAD v2: 7-150645617-C-T
• gnomAD v3: 7-150948529-C-T
• gnomAD v4: 7-150948529-C-T
• MyVariant Identifiers: chr7:g.150645617C>T (hg19) ; chr7:g.150948529C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948529C>T , CM000669.2:g.150948529C>T	GRCh38
NC_000007.13:g.150645617C>T , CM000669.1:g.150645617C>T	GRCh37
NC_000007.12:g.150276550C>T	NCBI36
NG_008916.1:g.34398G>A , LRG_288:g.34398G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3440G>A
ENST00000262186.10:c.2607G>A MANE Select	ENSP00000262186.5:p.Pro869=
ENST00000330883.9:c.1587G>A	ENSP00000328531.4:p.Pro529=
ENST00000262186.9:c.2607G>A	ENSP00000262186.5:p.Pro869=
ENST00000330883.8:c.1587G>A	ENSP00000328531.4:p.Pro529=
NM_000238.3:c.2607G>A , LRG_288t1:c.2607G>A	NP_000229.1:p.Pro869=
NM_172057.2:c.1587G>A , LRG_288t3:c.1587G>A	NP_742054.1:p.Pro529=
XM_011516185.1:c.2307G>A	XP_011514487.1:p.Pro769=
XM_011516186.1:c.2607G>A	XP_011514488.1:p.Pro869=
XM_011516185.2:c.2307G>A	XP_011514487.1:p.Pro769=
XM_011516186.3:c.2607G>A	XP_011514488.1:p.Pro869=
XM_017012195.1:c.2457G>A	XP_016867684.1:p.Pro819=
XM_017012196.1:c.2430G>A	XP_016867685.1:p.Pro810=
NM_000238.4:c.2607G>A MANE Select	NP_000229.1:p.Pro869=
NM_172057.3:c.1587G>A	NP_742054.1:p.Pro529=