Canonical Allele Identifier: CA369853075

Gene: KCNH2

Linked Data

• dbSNP Id: rs1800956987
• gnomAD v3: 7-150947626-T-A
• gnomAD v4: 7-150947626-T-A
• MyVariant Identifiers: chr7:g.150644714T>A (hg19) ; chr7:g.150947626T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947626T>A , CM000669.2:g.150947626T>A	GRCh38
NC_000007.13:g.150644714T>A , CM000669.1:g.150644714T>A	GRCh37
NC_000007.12:g.150275647T>A	NCBI36
NG_008916.1:g.35301A>T , LRG_288:g.35301A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3778A>T
ENST00000262186.10:c.2945A>T MANE Select	ENSP00000262186.5:p.Asp982Val
ENST00000330883.9:c.1925A>T	ENSP00000328531.4:p.Asp642Val
ENST00000262186.9:c.2945A>T	ENSP00000262186.5:p.Asp982Val
ENST00000330883.8:c.1925A>T	ENSP00000328531.4:p.Asp642Val
NM_000238.3:c.2945A>T , LRG_288t1:c.2945A>T	NP_000229.1:p.Asp982Val
NM_172057.2:c.1925A>T , LRG_288t3:c.1925A>T	NP_742054.1:p.Asp642Val
XM_011516185.1:c.2645A>T	XP_011514487.1:p.Asp882Val
XM_011516186.1:c.*25A>T	XP_011514488.1:n.*25A>T
XM_011516185.2:c.2645A>T	XP_011514487.1:p.Asp882Val
XM_011516186.3:c.*25A>T	XP_011514488.1:n.*25A>T
XM_017012195.1:c.2795A>T	XP_016867684.1:p.Asp932Val
XM_017012196.1:c.2768A>T	XP_016867685.1:p.Asp923Val
NM_000238.4:c.2945A>T MANE Select	NP_000229.1:p.Asp982Val
NM_172057.3:c.1925A>T	NP_742054.1:p.Asp642Val