Canonical Allele Identifier: CA369865464

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150974767-T-A
• MyVariant Identifiers: chr7:g.150671855T>A (hg19) ; chr7:g.150974767T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974767T>A , CM000669.2:g.150974767T>A	GRCh38
NC_000007.13:g.150671855T>A , CM000669.1:g.150671855T>A	GRCh37
NC_000007.12:g.150302788T>A	NCBI36
NG_008916.1:g.8160A>T , LRG_288:g.8160A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000262186.10:c.251A>T MANE Select	ENSP00000262186.5:p.Gln84Leu
ENST00000262186.9:c.251A>T	ENSP00000262186.5:p.Gln84Leu
ENST00000430723.4:c.74A>T	ENSP00000387657.4:p.Gln25Leu
ENST00000532957.5:n.474A>T
NM_000238.3:c.251A>T , LRG_288t1:c.251A>T	NP_000229.1:p.Gln84Leu
NM_172056.2:c.251A>T , LRG_288t2:c.251A>T	NP_742053.1:p.Gln84Leu
XM_011516186.1:c.251A>T	XP_011514488.1:p.Gln84Leu
XM_011516186.3:c.251A>T	XP_011514488.1:p.Gln84Leu
XM_017012196.1:c.74A>T	XP_016867685.1:p.Gln25Leu
NM_000238.4:c.251A>T MANE Select	NP_000229.1:p.Gln84Leu