Canonical Allele Identifier: CA2685607731

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958217-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958220del , CM000669.2:g.150958220del	GRCh38
NC_000007.13:g.150655308del , CM000669.1:g.150655308del	GRCh37
NC_000007.12:g.150286241del	NCBI36
NG_008916.1:g.24709del , LRG_288:g.24709del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1590del
ENST00000262186.10:c.757del MANE Select	ENSP00000262186.5:p.Ala253ArgfsTer?
ENST00000262186.9:c.757del	ENSP00000262186.5:p.Ala253ArgfsTer?
ENST00000430723.4:c.409del	ENSP00000387657.4:p.Ala137ArgfsTer?
ENST00000532957.5:n.980del
NM_000238.3:c.757del , LRG_288t1:c.757del	NP_000229.1:p.Ala253ArgfsTer?
NM_172056.2:c.757del , LRG_288t2:c.757del	NP_742053.1:p.Ala253ArgfsTer?
XM_011516185.1:c.457del	XP_011514487.1:p.Ala153ArgfsTer?
XM_011516186.1:c.757del	XP_011514488.1:p.Ala253ArgfsTer?
XM_011516185.2:c.457del	XP_011514487.1:p.Ala153ArgfsTer?
XM_011516186.3:c.757del	XP_011514488.1:p.Ala253ArgfsTer?
XM_017012195.1:c.607del	XP_016867684.1:p.Ala203ArgfsTer?
XM_017012196.1:c.580del	XP_016867685.1:p.Ala194ArgfsTer?
NM_000238.4:c.757del MANE Select	NP_000229.1:p.Ala253ArgfsTer?