Canonical Allele Identifier: CA350810

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 220070
• ClinVar RCV Id: RCV000206815
• dbSNP Id: rs864622366
• gnomAD v3: 7-150958122-C-T
• gnomAD v4: 7-150958122-C-T
• MyVariant Identifiers: chr7:g.150655210C>T (hg19) ; chr7:g.150958122C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958122C>T , CM000669.2:g.150958122C>T	GRCh38
NC_000007.13:g.150655210C>T , CM000669.1:g.150655210C>T	GRCh37
NC_000007.12:g.150286143C>T	NCBI36
NG_008916.1:g.24805G>A , LRG_288:g.24805G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1686G>A
ENST00000262186.10:c.853G>A MANE Select	ENSP00000262186.5:p.Ala285Thr
ENST00000262186.9:c.853G>A	ENSP00000262186.5:p.Ala285Thr
ENST00000430723.4:c.505G>A	ENSP00000387657.4:p.Ala169Thr
ENST00000532957.5:n.1076G>A
NM_000238.3:c.853G>A , LRG_288t1:c.853G>A	NP_000229.1:p.Ala285Thr
NM_172056.2:c.853G>A , LRG_288t2:c.853G>A	NP_742053.1:p.Ala285Thr
XM_011516185.1:c.553G>A	XP_011514487.1:p.Ala185Thr
XM_011516186.1:c.853G>A	XP_011514488.1:p.Ala285Thr
XM_011516185.2:c.553G>A	XP_011514487.1:p.Ala185Thr
XM_011516186.3:c.853G>A	XP_011514488.1:p.Ala285Thr
XM_017012195.1:c.703G>A	XP_016867684.1:p.Ala235Thr
XM_017012196.1:c.676G>A	XP_016867685.1:p.Ala226Thr
NM_000238.4:c.853G>A MANE Select	NP_000229.1:p.Ala285Thr