Canonical Allele Identifier: CA007185

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200592
• ClinVar RCV Id: RCV000181953 ; RCV000469823 ; RCV001842841 ; RCV002433798 ; RCV002500537
• dbSNP Id: rs775317201
• ExAC: 7:150674976 G / A
• gnomAD v2: 7-150674976-G-A
• gnomAD v3: 7-150977888-G-A
• gnomAD v4: 7-150977888-G-A
• MyVariant Identifiers: chr7:g.150674976G>A (hg19) ; chr7:g.150977888G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977888G>A , CM000669.2:g.150977888G>A	GRCh38
NC_000007.13:g.150674976G>A , CM000669.1:g.150674976G>A	GRCh37
NC_000007.12:g.150305909G>A	NCBI36
NG_008916.1:g.5039C>T , LRG_288:g.5039C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.26C>T MANE Select	ENSP00000262186.5:p.Ala9Val
ENST00000262186.9:c.26C>T	ENSP00000262186.5:p.Ala9Val
ENST00000430723.4:c.-152C>T	ENSP00000387657.4:n.-152C>T
ENST00000532957.5:n.249C>T
NM_000238.3:c.26C>T , LRG_288t1:c.26C>T	NP_000229.1:p.Ala9Val
NM_172056.2:c.26C>T , LRG_288t2:c.26C>T	NP_742053.1:p.Ala9Val
XM_011516186.1:c.26C>T	XP_011514488.1:p.Ala9Val
XM_011516186.3:c.26C>T	XP_011514488.1:p.Ala9Val
NM_000238.4:c.26C>T MANE Select	NP_000229.1:p.Ala9Val