Canonical Allele Identifier: CA2685610407

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150959825-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959828del , CM000669.2:g.150959828del	GRCh38
NC_000007.13:g.150656916del , CM000669.1:g.150656916del	GRCh37
NC_000007.12:g.150287849del	NCBI36
NG_008916.1:g.23101del , LRG_288:g.23101del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1051del
ENST00000262186.10:c.308-90del MANE Select	ENSP00000262186.5:n.308-90del
ENST00000262186.9:c.308-90del	ENSP00000262186.5:n.308-90del
ENST00000430723.4:c.131-90del	ENSP00000387657.4:n.131-90del
ENST00000532957.5:n.531-90del
NM_000238.3:c.308-90del , LRG_288t1:c.308-90del	NP_000229.1:n.308-90del
NM_172056.2:c.308-90del , LRG_288t2:c.308-90del	NP_742053.1:n.308-90del
XM_011516185.1:c.8-90del	XP_011514487.1:n.8-90del
XM_011516186.1:c.308-90del	XP_011514488.1:n.308-90del
XM_011516185.2:c.8-90del	XP_011514487.1:n.8-90del
XM_011516186.3:c.308-90del	XP_011514488.1:n.308-90del
XM_017012195.1:c.158-90del	XP_016867684.1:n.158-90del
XM_017012196.1:c.131-90del	XP_016867685.1:n.131-90del
NM_000238.4:c.308-90del MANE Select	NP_000229.1:n.308-90del