Canonical Allele Identifier: CA369863400

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150655528A>T (hg19) ; chr7:g.150958440A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958440A>T , CM000669.2:g.150958440A>T	GRCh38
NC_000007.13:g.150655528A>T , CM000669.1:g.150655528A>T	GRCh37
NC_000007.12:g.150286461A>T	NCBI36
NG_008916.1:g.24487T>A , LRG_288:g.24487T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1368T>A
ENST00000262186.10:c.535T>A MANE Select	ENSP00000262186.5:p.Ser179Thr
ENST00000262186.9:c.535T>A	ENSP00000262186.5:p.Ser179Thr
ENST00000430723.4:c.235-48T>A	ENSP00000387657.4:n.235-48T>A
ENST00000532957.5:n.758T>A
NM_000238.3:c.535T>A , LRG_288t1:c.535T>A	NP_000229.1:p.Ser179Thr
NM_172056.2:c.535T>A , LRG_288t2:c.535T>A	NP_742053.1:p.Ser179Thr
XM_011516185.1:c.235T>A	XP_011514487.1:p.Ser79Thr
XM_011516186.1:c.535T>A	XP_011514488.1:p.Ser179Thr
XM_011516185.2:c.235T>A	XP_011514487.1:p.Ser79Thr
XM_011516186.3:c.535T>A	XP_011514488.1:p.Ser179Thr
XM_017012195.1:c.385T>A	XP_016867684.1:p.Ser129Thr
XM_017012196.1:c.358T>A	XP_016867685.1:p.Ser120Thr
NM_000238.4:c.535T>A MANE Select	NP_000229.1:p.Ser179Thr