Canonical Allele Identifier: CA1108709511

Gene: KCNH2

Linked Data

• dbSNP Id: rs886489136
• gnomAD v3: 7-150975123-T-C
• gnomAD v4: 7-150975123-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150975123T>C , CM000669.2:g.150975123T>C	GRCh38
NC_000007.13:g.150672211T>C , CM000669.1:g.150672211T>C	GRCh37
NC_000007.12:g.150303144T>C	NCBI36
NG_008916.1:g.7804A>G , LRG_288:g.7804A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.77-182A>G MANE Select	ENSP00000262186.5:n.77-182A>G
ENST00000262186.9:c.77-182A>G	ENSP00000262186.5:n.77-182A>G
ENST00000430723.4:c.-101-182A>G	ENSP00000387657.4:n.-101-182A>G
ENST00000532957.5:n.300-182A>G
NM_000238.3:c.77-182A>G , LRG_288t1:c.77-182A>G	NP_000229.1:n.77-182A>G
NM_172056.2:c.77-182A>G , LRG_288t2:c.77-182A>G	NP_742053.1:n.77-182A>G
XM_011516186.1:c.77-182A>G	XP_011514488.1:n.77-182A>G
XM_011516186.3:c.77-182A>G	XP_011514488.1:n.77-182A>G
NM_000238.4:c.77-182A>G MANE Select	NP_000229.1:n.77-182A>G