Canonical Allele Identifier: CA2685602131

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947853-C-CGACACCTCCCCTG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947855_150947867dup , CM000669.2:g.150947855_150947867dup	GRCh38
NC_000007.13:g.150644943_150644955dup , CM000669.1:g.150644943_150644955dup	GRCh37
NC_000007.12:g.150275876_150275888dup	NCBI36
NG_008916.1:g.35061_35073dup , LRG_288:g.35061_35073dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3538_3550dup
ENST00000262186.10:c.2705_2717dup MANE Select	ENSP00000262186.5:p.Ala907ArgfsTer17
ENST00000330883.9:c.1685_1697dup	ENSP00000328531.4:p.Ala567ArgfsTer17
ENST00000262186.9:c.2705_2717dup	ENSP00000262186.5:p.Ala907ArgfsTer17
ENST00000330883.8:c.1685_1697dup	ENSP00000328531.4:p.Ala567ArgfsTer17
NM_000238.3:c.2705_2717dup , LRG_288t1:c.2705_2717dup	NP_000229.1:p.Ala907ArgfsTer17
NM_172057.2:c.1685_1697dup , LRG_288t3:c.1685_1697dup	NP_742054.1:p.Ala567ArgfsTer17
XM_011516185.1:c.2405_2417dup	XP_011514487.1:p.Ala807ArgfsTer17
XM_011516186.1:c.2693-175_2693-163dup	XP_011514488.1:n.2693-175_2693-163dup
XM_011516185.2:c.2405_2417dup	XP_011514487.1:p.Ala807ArgfsTer17
XM_011516186.3:c.2693-175_2693-163dup	XP_011514488.1:n.2693-175_2693-163dup
XM_017012195.1:c.2555_2567dup	XP_016867684.1:p.Ala857ArgfsTer17
XM_017012196.1:c.2528_2540dup	XP_016867685.1:p.Ala848ArgfsTer17
NM_000238.4:c.2705_2717dup MANE Select	NP_000229.1:p.Ala907ArgfsTer17
NM_172057.3:c.1685_1697dup	NP_742054.1:p.Ala567ArgfsTer17