Canonical Allele Identifier: CA008604

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 67512
• ClinVar RCV Id: RCV000058241 ; RCV000532958 ; RCV000780360 ; RCV000765946 ; RCV002345368 ; RCV004549487
• dbSNP Id: rs150817714
• ExAC: 7:150655495 C / T
• gnomAD v2: 7-150655495-C-T
• gnomAD v3: 7-150958407-C-T
• gnomAD v4: 7-150958407-C-T
• MyVariant Identifiers: chr7:g.150655495C>T (hg19) ; chr7:g.150958407C>T (hg38)
• PubMed: PMID:14661677 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958407C>T , CM000669.2:g.150958407C>T	GRCh38
NC_000007.13:g.150655495C>T , CM000669.1:g.150655495C>T	GRCh37
NC_000007.12:g.150286428C>T	NCBI36
NG_008916.1:g.24520G>A , LRG_288:g.24520G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1401G>A
ENST00000262186.10:c.568G>A MANE Select	ENSP00000262186.5:p.Ala190Thr
ENST00000262186.9:c.568G>A	ENSP00000262186.5:p.Ala190Thr
ENST00000430723.4:c.235-15G>A	ENSP00000387657.4:n.235-15G>A
ENST00000532957.5:n.791G>A
NM_000238.3:c.568G>A , LRG_288t1:c.568G>A	NP_000229.1:p.Ala190Thr
NM_172056.2:c.568G>A , LRG_288t2:c.568G>A	NP_742053.1:p.Ala190Thr
XM_011516185.1:c.268G>A	XP_011514487.1:p.Ala90Thr
XM_011516186.1:c.568G>A	XP_011514488.1:p.Ala190Thr
XM_011516185.2:c.268G>A	XP_011514487.1:p.Ala90Thr
XM_011516186.3:c.568G>A	XP_011514488.1:p.Ala190Thr
XM_017012195.1:c.418G>A	XP_016867684.1:p.Ala140Thr
XM_017012196.1:c.391G>A	XP_016867685.1:p.Ala131Thr
NM_000238.4:c.568G>A MANE Select	NP_000229.1:p.Ala190Thr