Canonical Allele Identifier: CA369853666

Gene: KCNH2

Linked Data

• dbSNP Id: rs1244787081
• MyVariant Identifiers: chr7:g.150645552A>T (hg19) ; chr7:g.150948464A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948464A>T , CM000669.2:g.150948464A>T	GRCh38
NC_000007.13:g.150645552A>T , CM000669.1:g.150645552A>T	GRCh37
NC_000007.12:g.150276485A>T	NCBI36
NG_008916.1:g.34463T>A , LRG_288:g.34463T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3505T>A
ENST00000262186.10:c.2672T>A MANE Select	ENSP00000262186.5:p.Phe891Tyr
ENST00000330883.9:c.1652T>A	ENSP00000328531.4:p.Phe551Tyr
ENST00000262186.9:c.2672T>A	ENSP00000262186.5:p.Phe891Tyr
ENST00000330883.8:c.1652T>A	ENSP00000328531.4:p.Phe551Tyr
NM_000238.3:c.2672T>A , LRG_288t1:c.2672T>A	NP_000229.1:p.Phe891Tyr
NM_172057.2:c.1652T>A , LRG_288t3:c.1652T>A	NP_742054.1:p.Phe551Tyr
XM_011516185.1:c.2372T>A	XP_011514487.1:p.Phe791Tyr
XM_011516186.1:c.2672T>A	XP_011514488.1:p.Phe891Tyr
XM_011516185.2:c.2372T>A	XP_011514487.1:p.Phe791Tyr
XM_011516186.3:c.2672T>A	XP_011514488.1:p.Phe891Tyr
XM_017012195.1:c.2522T>A	XP_016867684.1:p.Phe841Tyr
XM_017012196.1:c.2495T>A	XP_016867685.1:p.Phe832Tyr
NM_000238.4:c.2672T>A MANE Select	NP_000229.1:p.Phe891Tyr
NM_172057.3:c.1652T>A	NP_742054.1:p.Phe551Tyr