Canonical Allele Identifier: CA072131

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150958172-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958174del , CM000669.2:g.150958174del	GRCh38
NC_000007.13:g.150655262del , CM000669.1:g.150655262del	GRCh37
NC_000007.12:g.150286195del	NCBI36
NG_008916.1:g.24754del , LRG_288:g.24754del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1635del
ENST00000262186.10:c.802del MANE Select	ENSP00000262186.5:p.Ala268ProfsTer?
ENST00000262186.9:c.802del	ENSP00000262186.5:p.Ala268ProfsTer?
ENST00000430723.4:c.454del	ENSP00000387657.4:p.Ala152ProfsTer?
ENST00000532957.5:n.1025del
NM_000238.3:c.802del , LRG_288t1:c.802del	NP_000229.1:p.Ala268ProfsTer?
NM_172056.2:c.802del , LRG_288t2:c.802del	NP_742053.1:p.Ala268ProfsTer?
XM_011516185.1:c.502del	XP_011514487.1:p.Ala168ProfsTer?
XM_011516186.1:c.802del	XP_011514488.1:p.Ala268ProfsTer?
XM_011516185.2:c.502del	XP_011514487.1:p.Ala168ProfsTer?
XM_011516186.3:c.802del	XP_011514488.1:p.Ala268ProfsTer?
XM_017012195.1:c.652del	XP_016867684.1:p.Ala218ProfsTer?
XM_017012196.1:c.625del	XP_016867685.1:p.Ala209ProfsTer?
NM_000238.4:c.802del MANE Select	NP_000229.1:p.Ala268ProfsTer?