Canonical Allele Identifier: CA033812

Gene: KCNH2

Linked Data

• dbSNP Id: rs765427343
• ExAC: 7:150645559 A / T
• gnomAD v2: 7-150645559-A-T
• gnomAD v4: 7-150948471-A-T
• MyVariant Identifiers: chr7:g.150645559A>T (hg19) ; chr7:g.150948471A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948471A>T , CM000669.2:g.150948471A>T	GRCh38
NC_000007.13:g.150645559A>T , CM000669.1:g.150645559A>T	GRCh37
NC_000007.12:g.150276492A>T	NCBI36
NG_008916.1:g.34456T>A , LRG_288:g.34456T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3498T>A
ENST00000262186.10:c.2665T>A MANE Select	ENSP00000262186.5:p.Leu889Met
ENST00000330883.9:c.1645T>A	ENSP00000328531.4:p.Leu549Met
ENST00000262186.9:c.2665T>A	ENSP00000262186.5:p.Leu889Met
ENST00000330883.8:c.1645T>A	ENSP00000328531.4:p.Leu549Met
NM_000238.3:c.2665T>A , LRG_288t1:c.2665T>A	NP_000229.1:p.Leu889Met
NM_172057.2:c.1645T>A , LRG_288t3:c.1645T>A	NP_742054.1:p.Leu549Met
XM_011516185.1:c.2365T>A	XP_011514487.1:p.Leu789Met
XM_011516186.1:c.2665T>A	XP_011514488.1:p.Leu889Met
XM_011516185.2:c.2365T>A	XP_011514487.1:p.Leu789Met
XM_011516186.3:c.2665T>A	XP_011514488.1:p.Leu889Met
XM_017012195.1:c.2515T>A	XP_016867684.1:p.Leu839Met
XM_017012196.1:c.2488T>A	XP_016867685.1:p.Leu830Met
NM_000238.4:c.2665T>A MANE Select	NP_000229.1:p.Leu889Met
NM_172057.3:c.1645T>A	NP_742054.1:p.Leu549Met