Canonical Allele Identifier: CA369865482

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150974771-C-T
• COSMIC: COSM5817957 ; COSM5817958
• MyVariant Identifiers: chr7:g.150671859C>T (hg19) ; chr7:g.150974771C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974771C>T , CM000669.2:g.150974771C>T	GRCh38
NC_000007.13:g.150671859C>T , CM000669.1:g.150671859C>T	GRCh37
NC_000007.12:g.150302792C>T	NCBI36
NG_008916.1:g.8156G>A , LRG_288:g.8156G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.247G>A MANE Select	ENSP00000262186.5:p.Ala83Thr
ENST00000262186.9:c.247G>A	ENSP00000262186.5:p.Ala83Thr
ENST00000430723.4:c.70G>A	ENSP00000387657.4:p.Ala24Thr
ENST00000532957.5:n.470G>A
NM_000238.3:c.247G>A , LRG_288t1:c.247G>A	NP_000229.1:p.Ala83Thr
NM_172056.2:c.247G>A , LRG_288t2:c.247G>A	NP_742053.1:p.Ala83Thr
XM_011516186.1:c.247G>A	XP_011514488.1:p.Ala83Thr
XM_011516186.3:c.247G>A	XP_011514488.1:p.Ala83Thr
XM_017012196.1:c.70G>A	XP_016867685.1:p.Ala24Thr
NM_000238.4:c.247G>A MANE Select	NP_000229.1:p.Ala83Thr