Canonical Allele Identifier: CA835214349

Gene: KCNH2

Linked Data

• dbSNP Id: rs566068538
• gnomAD v4: 7-150975071-G-T
• MyVariant Identifiers: chr7:g.150672159G>T (hg19) ; chr7:g.150975071G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150975071G>T , CM000669.2:g.150975071G>T	GRCh38
NC_000007.13:g.150672159G>T , CM000669.1:g.150672159G>T	GRCh37
NC_000007.12:g.150303092G>T	NCBI36
NG_008916.1:g.7856C>A , LRG_288:g.7856C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.77-130C>A MANE Select	ENSP00000262186.5:n.77-130C>A
ENST00000262186.9:c.77-130C>A	ENSP00000262186.5:n.77-130C>A
ENST00000430723.4:c.-101-130C>A	ENSP00000387657.4:n.-101-130C>A
ENST00000532957.5:n.300-130C>A
NM_000238.3:c.77-130C>A , LRG_288t1:c.77-130C>A	NP_000229.1:n.77-130C>A
NM_172056.2:c.77-130C>A , LRG_288t2:c.77-130C>A	NP_742053.1:n.77-130C>A
XM_011516186.1:c.77-130C>A	XP_011514488.1:n.77-130C>A
XM_011516186.3:c.77-130C>A	XP_011514488.1:n.77-130C>A
NM_000238.4:c.77-130C>A MANE Select	NP_000229.1:n.77-130C>A