Canonical Allele Identifier: CA369855240

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150646084A>T (hg19) ; chr7:g.150948996A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948996A>T , CM000669.2:g.150948996A>T	GRCh38
NC_000007.13:g.150646084A>T , CM000669.1:g.150646084A>T	GRCh37
NC_000007.12:g.150277017A>T	NCBI36
NG_008916.1:g.33931T>A , LRG_288:g.33931T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3285T>A
ENST00000262186.10:c.2452T>A MANE Select	ENSP00000262186.5:p.Ser818Thr
ENST00000330883.9:c.1432T>A	ENSP00000328531.4:p.Ser478Thr
ENST00000262186.9:c.2452T>A	ENSP00000262186.5:p.Ser818Thr
ENST00000330883.8:c.1432T>A	ENSP00000328531.4:p.Ser478Thr
NM_000238.3:c.2452T>A , LRG_288t1:c.2452T>A	NP_000229.1:p.Ser818Thr
NM_172057.2:c.1432T>A , LRG_288t3:c.1432T>A	NP_742054.1:p.Ser478Thr
XM_011516185.1:c.2152T>A	XP_011514487.1:p.Ser718Thr
XM_011516186.1:c.2452T>A	XP_011514488.1:p.Ser818Thr
XM_011516185.2:c.2152T>A	XP_011514487.1:p.Ser718Thr
XM_011516186.3:c.2452T>A	XP_011514488.1:p.Ser818Thr
XM_017012195.1:c.2302T>A	XP_016867684.1:p.Ser768Thr
XM_017012196.1:c.2275T>A	XP_016867685.1:p.Ser759Thr
NM_000238.4:c.2452T>A MANE Select	NP_000229.1:p.Ser818Thr
NM_172057.3:c.1432T>A	NP_742054.1:p.Ser478Thr