Canonical Allele Identifier: CA369854859

Gene: KCNH2

Linked Data

• dbSNP Id: rs1452965295
• gnomAD v3: 7-150948903-A-T
• gnomAD v4: 7-150948903-A-T
• MyVariant Identifiers: chr7:g.150645991A>T (hg19) ; chr7:g.150948903A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948903A>T , CM000669.2:g.150948903A>T	GRCh38
NC_000007.13:g.150645991A>T , CM000669.1:g.150645991A>T	GRCh37
NC_000007.12:g.150276924A>T	NCBI36
NG_008916.1:g.34024T>A , LRG_288:g.34024T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3378T>A
ENST00000262186.10:c.2545T>A MANE Select	ENSP00000262186.5:p.Ser849Thr
ENST00000330883.9:c.1525T>A	ENSP00000328531.4:p.Ser509Thr
ENST00000262186.9:c.2545T>A	ENSP00000262186.5:p.Ser849Thr
ENST00000330883.8:c.1525T>A	ENSP00000328531.4:p.Ser509Thr
NM_000238.3:c.2545T>A , LRG_288t1:c.2545T>A	NP_000229.1:p.Ser849Thr
NM_172057.2:c.1525T>A , LRG_288t3:c.1525T>A	NP_742054.1:p.Ser509Thr
XM_011516185.1:c.2245T>A	XP_011514487.1:p.Ser749Thr
XM_011516186.1:c.2545T>A	XP_011514488.1:p.Ser849Thr
XM_011516185.2:c.2245T>A	XP_011514487.1:p.Ser749Thr
XM_011516186.3:c.2545T>A	XP_011514488.1:p.Ser849Thr
XM_017012195.1:c.2395T>A	XP_016867684.1:p.Ser799Thr
XM_017012196.1:c.2368T>A	XP_016867685.1:p.Ser790Thr
NM_000238.4:c.2545T>A MANE Select	NP_000229.1:p.Ser849Thr
NM_172057.3:c.1525T>A	NP_742054.1:p.Ser509Thr