Canonical Allele Identifier: CA1752432094

Gene: KCNH2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949038_150949041delinsTGTC , CM000669.2:g.150949038_150949041delinsTGTC	GRCh38
NC_000007.13:g.150646126_150646129delinsTGTC , CM000669.1:g.150646126_150646129delinsTGTC	GRCh37
NC_000007.12:g.150277059_150277062delinsTGTC	NCBI36
NG_008916.1:g.33886_33889delinsGACA , LRG_288:g.33886_33889delinsGACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3240_3243delinsGACA
ENST00000262186.10:c.2407_2410delinsGACA MANE Select	ENSP00000262186.5:p.Asp803=
ENST00000330883.9:c.1387_1390delinsGACA	ENSP00000328531.4:p.Asp463=
ENST00000262186.9:c.2407_2410delinsGACA	ENSP00000262186.5:p.Asp803=
ENST00000330883.8:c.1387_1390delinsGACA	ENSP00000328531.4:p.Asp463=
NM_000238.3:c.2407_2410delinsGACA , LRG_288t1:c.2407_2410delinsGACA	NP_000229.1:p.Asp803=
NM_172057.2:c.1387_1390delinsGACA , LRG_288t3:c.1387_1390delinsGACA	NP_742054.1:p.Asp463=
XM_011516185.1:c.2107_2110delinsGACA	XP_011514487.1:p.Asp703=
XM_011516186.1:c.2407_2410delinsGACA	XP_011514488.1:p.Asp803=
XM_011516185.2:c.2107_2110delinsGACA	XP_011514487.1:p.Asp703=
XM_011516186.3:c.2407_2410delinsGACA	XP_011514488.1:p.Asp803=
XM_017012195.1:c.2257_2260delinsGACA	XP_016867684.1:p.Asp753=
XM_017012196.1:c.2230_2233delinsGACA	XP_016867685.1:p.Asp744=
NM_000238.4:c.2407_2410delinsGACA MANE Select	NP_000229.1:p.Asp803=
NM_172057.3:c.1387_1390delinsGACA	NP_742054.1:p.Asp463=