Canonical Allele Identifier: CA369862528

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 2084522
• ClinVar RCV Id: RCV002994750
• gnomAD v4: 7-150958197-C-T
• MyVariant Identifiers: chr7:g.150655285C>T (hg19) ; chr7:g.150958197C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958197C>T , CM000669.2:g.150958197C>T	GRCh38
NC_000007.13:g.150655285C>T , CM000669.1:g.150655285C>T	GRCh37
NC_000007.12:g.150286218C>T	NCBI36
NG_008916.1:g.24730G>A , LRG_288:g.24730G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1611G>A
ENST00000262186.10:c.778G>A MANE Select	ENSP00000262186.5:p.Ala260Thr
ENST00000262186.9:c.778G>A	ENSP00000262186.5:p.Ala260Thr
ENST00000430723.4:c.430G>A	ENSP00000387657.4:p.Ala144Thr
ENST00000532957.5:n.1001G>A
NM_000238.3:c.778G>A , LRG_288t1:c.778G>A	NP_000229.1:p.Ala260Thr
NM_172056.2:c.778G>A , LRG_288t2:c.778G>A	NP_742053.1:p.Ala260Thr
XM_011516185.1:c.478G>A	XP_011514487.1:p.Ala160Thr
XM_011516186.1:c.778G>A	XP_011514488.1:p.Ala260Thr
XM_011516185.2:c.478G>A	XP_011514487.1:p.Ala160Thr
XM_011516186.3:c.778G>A	XP_011514488.1:p.Ala260Thr
XM_017012195.1:c.628G>A	XP_016867684.1:p.Ala210Thr
XM_017012196.1:c.601G>A	XP_016867685.1:p.Ala201Thr
NM_000238.4:c.778G>A MANE Select	NP_000229.1:p.Ala260Thr