Canonical Allele Identifier: CA2685601941

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947425-T-TGGGGGGGGGGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947430_150947431insGGGGGGGGGGGGG , CM000669.2:g.150947430_150947431insGGGGGGGGGGGGG	GRCh38
NC_000007.13:g.150644518_150644519insGGGGGGGGGGGGG , CM000669.1:g.150644518_150644519insGGGGGGGGGGGGG	GRCh37
NC_000007.12:g.150275451_150275452insGGGGGGGGGGGGG	NCBI36
NG_008916.1:g.35501_35502insCCCCCCCCCCCCC , LRG_288:g.35501_35502insCCCCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.3887_3888insCCCCCCCCCCCCC
ENST00000262186.10:c.3054_3055insCCCCCCCCCCCCC MANE Select	ENSP00000262186.5:p.Thr1019ProfsTer?
ENST00000330883.9:c.2034_2035insCCCCCCCCCCCCC	ENSP00000328531.4:p.Thr679ProfsTer?
ENST00000262186.9:c.3054_3055insCCCCCCCCCCCCC	ENSP00000262186.5:p.Thr1019ProfsTer?
ENST00000330883.8:c.2034_2035insCCCCCCCCCCCCC	ENSP00000328531.4:p.Thr679ProfsTer?
NM_000238.3:c.3054_3055insCCCCCCCCCCCCC , LRG_288t1:c.3054_3055insCCCCCCCCCCCCC	NP_000229.1:p.Thr1019ProfsTer?
NM_172057.2:c.2034_2035insCCCCCCCCCCCCC , LRG_288t3:c.2034_2035insCCCCCCCCCCCCC	NP_742054.1:p.Thr679ProfsTer?
XM_011516185.1:c.2754_2755insCCCCCCCCCCCCC	XP_011514487.1:p.Thr919ProfsTer?
XM_011516186.1:c.*134_*135insCCCCCCCCCCCCC	XP_011514488.1:n.*134_*135insCCCCCCCCCCCCC
XM_011516185.2:c.2754_2755insCCCCCCCCCCCCC	XP_011514487.1:p.Thr919ProfsTer?
XM_011516186.3:c.*134_*135insCCCCCCCCCCCCC	XP_011514488.1:n.*134_*135insCCCCCCCCCCCCC
XM_017012195.1:c.2904_2905insCCCCCCCCCCCCC	XP_016867684.1:p.Thr969ProfsTer?
XM_017012196.1:c.2877_2878insCCCCCCCCCCCCC	XP_016867685.1:p.Thr960ProfsTer?
NM_000238.4:c.3054_3055insCCCCCCCCCCCCC MANE Select	NP_000229.1:p.Thr1019ProfsTer?
NM_172057.3:c.2034_2035insCCCCCCCCCCCCC	NP_742054.1:p.Thr679ProfsTer?