Canonical Allele Identifier: CA1108704350

Gene: KCNH2

Linked Data

• gnomAD v3: 7-150945500-C-CGT
• gnomAD v4: 7-150945500-C-CGT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945500_150945501insGT , CM000669.2:g.150945500_150945501insGT	GRCh38
NC_000007.13:g.150642588_150642589insGT , CM000669.1:g.150642588_150642589insGT	GRCh37
NC_000007.12:g.150273521_150273522insGT	NCBI36
NG_008916.1:g.37426_37427insAC , LRG_288:g.37426_37427insAC

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4177_4178insAC
ENST00000262186.10:c.3344_3345insAC MANE Select	ENSP00000262186.5:p.Met1115IlefsTer?
ENST00000330883.9:c.2324_2325insAC	ENSP00000328531.4:p.Met775IlefsTer?
ENST00000262186.9:c.3344_3345insAC	ENSP00000262186.5:p.Met1115IlefsTer?
ENST00000330883.8:c.2324_2325insAC	ENSP00000328531.4:p.Met775IlefsTer?
NM_000238.3:c.3344_3345insAC , LRG_288t1:c.3344_3345insAC	NP_000229.1:p.Met1115IlefsTer?
NM_172057.2:c.2324_2325insAC , LRG_288t3:c.2324_2325insAC	NP_742054.1:p.Met775IlefsTer?
XM_011516185.1:c.3044_3045insAC	XP_011514487.1:p.Met1015IlefsTer?
XM_011516185.2:c.3044_3045insAC	XP_011514487.1:p.Met1015IlefsTer?
XM_017012195.1:c.3194_3195insAC	XP_016867684.1:p.Met1065IlefsTer?
XM_017012196.1:c.3167_3168insAC	XP_016867685.1:p.Met1056IlefsTer?
NM_000238.4:c.3344_3345insAC MANE Select	NP_000229.1:p.Met1115IlefsTer?
NM_172057.3:c.2324_2325insAC	NP_742054.1:p.Met775IlefsTer?