Canonical Allele Identifier: CA2685610017

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150959527-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959527T>G , CM000669.2:g.150959527T>G	GRCh38
NC_000007.13:g.150656615T>G , CM000669.1:g.150656615T>G	GRCh37
NC_000007.12:g.150287548T>G	NCBI36
NG_008916.1:g.23400A>C , LRG_288:g.23400A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1305+45A>C
ENST00000262186.10:c.472+45A>C MANE Select	ENSP00000262186.5:n.472+45A>C
ENST00000262186.9:c.472+45A>C	ENSP00000262186.5:n.472+45A>C
ENST00000430723.4:c.234+106A>C	ENSP00000387657.4:n.234+106A>C
ENST00000532957.5:n.695+45A>C
NM_000238.3:c.472+45A>C , LRG_288t1:c.472+45A>C	NP_000229.1:n.472+45A>C
NM_172056.2:c.472+45A>C , LRG_288t2:c.472+45A>C	NP_742053.1:n.472+45A>C
XM_011516185.1:c.172+45A>C	XP_011514487.1:n.172+45A>C
XM_011516186.1:c.472+45A>C	XP_011514488.1:n.472+45A>C
XM_011516185.2:c.172+45A>C	XP_011514487.1:n.172+45A>C
XM_011516186.3:c.472+45A>C	XP_011514488.1:n.472+45A>C
XM_017012195.1:c.322+45A>C	XP_016867684.1:n.322+45A>C
XM_017012196.1:c.295+45A>C	XP_016867685.1:n.295+45A>C
NM_000238.4:c.472+45A>C MANE Select	NP_000229.1:n.472+45A>C