Canonical Allele Identifier: CA369852489

Gene: KCNH2

Linked Data

• MyVariant Identifiers: chr7:g.150644422A>T (hg19) ; chr7:g.150947334A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947334A>T , CM000669.2:g.150947334A>T	GRCh38
NC_000007.13:g.150644422A>T , CM000669.1:g.150644422A>T	GRCh37
NC_000007.12:g.150275355A>T	NCBI36
NG_008916.1:g.35593T>A , LRG_288:g.35593T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3979T>A
ENST00000262186.10:c.3146T>A MANE Select	ENSP00000262186.5:p.Leu1049His
ENST00000330883.9:c.2126T>A	ENSP00000328531.4:p.Leu709His
ENST00000262186.9:c.3146T>A	ENSP00000262186.5:p.Leu1049His
ENST00000330883.8:c.2126T>A	ENSP00000328531.4:p.Leu709His
NM_000238.3:c.3146T>A , LRG_288t1:c.3146T>A	NP_000229.1:p.Leu1049His
NM_172057.2:c.2126T>A , LRG_288t3:c.2126T>A	NP_742054.1:p.Leu709His
XM_011516185.1:c.2846T>A	XP_011514487.1:p.Leu949His
XM_011516185.2:c.2846T>A	XP_011514487.1:p.Leu949His
XM_017012195.1:c.2996T>A	XP_016867684.1:p.Leu999His
XM_017012196.1:c.2969T>A	XP_016867685.1:p.Leu990His
NM_000238.4:c.3146T>A MANE Select	NP_000229.1:p.Leu1049His
NM_172057.3:c.2126T>A	NP_742054.1:p.Leu709His