Canonical Allele Identifier: CA1108709457

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801945600
• gnomAD v3: 7-150975015-C-A
• gnomAD v4: 7-150975015-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150975015C>A , CM000669.2:g.150975015C>A	GRCh38
NC_000007.13:g.150672103C>A , CM000669.1:g.150672103C>A	GRCh37
NC_000007.12:g.150303036C>A	NCBI36
NG_008916.1:g.7912G>T , LRG_288:g.7912G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.77-74G>T MANE Select	ENSP00000262186.5:n.77-74G>T
ENST00000262186.9:c.77-74G>T	ENSP00000262186.5:n.77-74G>T
ENST00000430723.4:c.-101-74G>T	ENSP00000387657.4:n.-101-74G>T
ENST00000532957.5:n.300-74G>T
NM_000238.3:c.77-74G>T , LRG_288t1:c.77-74G>T	NP_000229.1:n.77-74G>T
NM_172056.2:c.77-74G>T , LRG_288t2:c.77-74G>T	NP_742053.1:n.77-74G>T
XM_011516186.1:c.77-74G>T	XP_011514488.1:n.77-74G>T
XM_011516186.3:c.77-74G>T	XP_011514488.1:n.77-74G>T
XM_017012196.1:c.-102+10G>T	XP_016867685.1:n.-102+10G>T
NM_000238.4:c.77-74G>T MANE Select	NP_000229.1:n.77-74G>T