Canonical Allele Identifier: CA2685601815

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947367-A-ACGT

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947370_150947372dup , CM000669.2:g.150947370_150947372dup	GRCh38
NC_000007.13:g.150644458_150644460dup , CM000669.1:g.150644458_150644460dup	GRCh37
NC_000007.12:g.150275391_150275393dup	NCBI36
NG_008916.1:g.35557_35559dup , LRG_288:g.35557_35559dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3943_3945dup
ENST00000262186.10:c.3110_3112dup MANE Select	ENSP00000262186.5:p.Asp1037_Val1038insAsp
ENST00000330883.9:c.2090_2092dup	ENSP00000328531.4:p.Asp697_Val698insAsp
ENST00000262186.9:c.3110_3112dup	ENSP00000262186.5:p.Asp1037_Val1038insAsp
ENST00000330883.8:c.2090_2092dup	ENSP00000328531.4:p.Asp697_Val698insAsp
NM_000238.3:c.3110_3112dup , LRG_288t1:c.3110_3112dup	NP_000229.1:p.Asp1037_Val1038insAsp
NM_172057.2:c.2090_2092dup , LRG_288t3:c.2090_2092dup	NP_742054.1:p.Asp697_Val698insAsp
XM_011516185.1:c.2810_2812dup	XP_011514487.1:p.Asp937_Val938insAsp
XM_011516185.2:c.2810_2812dup	XP_011514487.1:p.Asp937_Val938insAsp
XM_017012195.1:c.2960_2962dup	XP_016867684.1:p.Asp987_Val988insAsp
XM_017012196.1:c.2933_2935dup	XP_016867685.1:p.Asp978_Val979insAsp
NM_000238.4:c.3110_3112dup MANE Select	NP_000229.1:p.Asp1037_Val1038insAsp
NM_172057.3:c.2090_2092dup	NP_742054.1:p.Asp697_Val698insAsp