Canonical Allele Identifier: CA369860202

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150952769-G-T
• MyVariant Identifiers: chr7:g.150649857G>T (hg19) ; chr7:g.150952769G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952769G>T , CM000669.2:g.150952769G>T	GRCh38
NC_000007.13:g.150649857G>T , CM000669.1:g.150649857G>T	GRCh37
NC_000007.12:g.150280790G>T	NCBI36
NG_008916.1:g.30158C>A , LRG_288:g.30158C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.511C>A
ENST00000684116.1:n.106C>A
ENST00000684241.1:n.2046C>A
ENST00000262186.10:c.1213C>A MANE Select	ENSP00000262186.5:p.Pro405Thr
ENST00000330883.9:c.193C>A	ENSP00000328531.4:p.Pro65Thr
ENST00000262186.9:c.1213C>A	ENSP00000262186.5:p.Pro405Thr
ENST00000330883.8:c.193C>A	ENSP00000328531.4:p.Pro65Thr
ENST00000430723.4:c.865C>A	ENSP00000387657.4:p.Pro289Thr
ENST00000461280.1:n.500C>A
ENST00000473610.5:n.518C>A
ENST00000532957.5:n.1436C>A
NM_000238.3:c.1213C>A , LRG_288t1:c.1213C>A	NP_000229.1:p.Pro405Thr
NM_001204798.1:c.193C>A	NP_001191727.1:p.Pro65Thr
NM_172056.2:c.1213C>A , LRG_288t2:c.1213C>A	NP_742053.1:p.Pro405Thr
NM_172057.2:c.193C>A , LRG_288t3:c.193C>A	NP_742054.1:p.Pro65Thr
XM_011516185.1:c.913C>A	XP_011514487.1:p.Pro305Thr
XM_011516186.1:c.1213C>A	XP_011514488.1:p.Pro405Thr
XM_011516185.2:c.913C>A	XP_011514487.1:p.Pro305Thr
XM_011516186.3:c.1213C>A	XP_011514488.1:p.Pro405Thr
XM_017012195.1:c.1063C>A	XP_016867684.1:p.Pro355Thr
XM_017012196.1:c.1036C>A	XP_016867685.1:p.Pro346Thr
NM_000238.4:c.1213C>A MANE Select	NP_000229.1:p.Pro405Thr
NM_001204798.2:c.193C>A	NP_001191727.1:p.Pro65Thr
NM_172057.3:c.193C>A	NP_742054.1:p.Pro65Thr