Canonical Allele Identifier: CA2685606253

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150957566-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150957566T>G , CM000669.2:g.150957566T>G	GRCh38
NC_000007.13:g.150654654T>G , CM000669.1:g.150654654T>G	GRCh37
NC_000007.12:g.150285587T>G	NCBI36
NG_008916.1:g.25361A>C , LRG_288:g.25361A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1750-64A>C
ENST00000262186.10:c.917-64A>C MANE Select	ENSP00000262186.5:n.917-64A>C
ENST00000262186.9:c.917-64A>C	ENSP00000262186.5:n.917-64A>C
ENST00000430723.4:c.569-64A>C	ENSP00000387657.4:n.569-64A>C
ENST00000532957.5:n.1140-64A>C
NM_000238.3:c.917-64A>C , LRG_288t1:c.917-64A>C	NP_000229.1:n.917-64A>C
NM_172056.2:c.917-64A>C , LRG_288t2:c.917-64A>C	NP_742053.1:n.917-64A>C
XM_011516185.1:c.617-64A>C	XP_011514487.1:n.617-64A>C
XM_011516186.1:c.917-64A>C	XP_011514488.1:n.917-64A>C
XM_011516185.2:c.617-64A>C	XP_011514487.1:n.617-64A>C
XM_011516186.3:c.917-64A>C	XP_011514488.1:n.917-64A>C
XM_017012195.1:c.767-64A>C	XP_016867684.1:n.767-64A>C
XM_017012196.1:c.740-64A>C	XP_016867685.1:n.740-64A>C
NM_000238.4:c.917-64A>C MANE Select	NP_000229.1:n.917-64A>C