Canonical Allele Identifier: CA369863019

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958337-T-A
• MyVariant Identifiers: chr7:g.150655425T>A (hg19) ; chr7:g.150958337T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958337T>A , CM000669.2:g.150958337T>A	GRCh38
NC_000007.13:g.150655425T>A , CM000669.1:g.150655425T>A	GRCh37
NC_000007.12:g.150286358T>A	NCBI36
NG_008916.1:g.24590A>T , LRG_288:g.24590A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1471A>T
ENST00000262186.10:c.638A>T MANE Select	ENSP00000262186.5:p.Asp213Val
ENST00000262186.9:c.638A>T	ENSP00000262186.5:p.Asp213Val
ENST00000430723.4:c.290A>T	ENSP00000387657.4:p.Asp97Val
ENST00000532957.5:n.861A>T
NM_000238.3:c.638A>T , LRG_288t1:c.638A>T	NP_000229.1:p.Asp213Val
NM_172056.2:c.638A>T , LRG_288t2:c.638A>T	NP_742053.1:p.Asp213Val
XM_011516185.1:c.338A>T	XP_011514487.1:p.Asp113Val
XM_011516186.1:c.638A>T	XP_011514488.1:p.Asp213Val
XM_011516185.2:c.338A>T	XP_011514487.1:p.Asp113Val
XM_011516186.3:c.638A>T	XP_011514488.1:p.Asp213Val
XM_017012195.1:c.488A>T	XP_016867684.1:p.Asp163Val
XM_017012196.1:c.461A>T	XP_016867685.1:p.Asp154Val
NM_000238.4:c.638A>T MANE Select	NP_000229.1:p.Asp213Val