Canonical Allele Identifier: CA2685600553

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150946903-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150946907del , CM000669.2:g.150946907del	GRCh38
NC_000007.13:g.150643995del , CM000669.1:g.150643995del	GRCh37
NC_000007.12:g.150274928del	NCBI36
NG_008916.1:g.36023del , LRG_288:g.36023del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4136del
ENST00000262186.10:c.3303del MANE Select	ENSP00000262186.5:p.Thr1102ProfsTer?
ENST00000330883.9:c.2283del	ENSP00000328531.4:p.Thr762ProfsTer?
ENST00000262186.9:c.3303del	ENSP00000262186.5:p.Thr1102ProfsTer?
ENST00000330883.8:c.2283del	ENSP00000328531.4:p.Thr762ProfsTer?
NM_000238.3:c.3303del , LRG_288t1:c.3303del	NP_000229.1:p.Thr1102ProfsTer?
NM_172057.2:c.2283del , LRG_288t3:c.2283del	NP_742054.1:p.Thr762ProfsTer?
XM_011516185.1:c.3003del	XP_011514487.1:p.Thr1002ProfsTer?
XM_011516185.2:c.3003del	XP_011514487.1:p.Thr1002ProfsTer?
XM_017012195.1:c.3153del	XP_016867684.1:p.Thr1052ProfsTer?
XM_017012196.1:c.3126del	XP_016867685.1:p.Thr1043ProfsTer?
NM_000238.4:c.3303del MANE Select	NP_000229.1:p.Thr1102ProfsTer?
NM_172057.3:c.2283del	NP_742054.1:p.Thr762ProfsTer?