Canonical Allele Identifier: CA1108705243

Gene: KCNH2

Linked Data

• dbSNP Id: rs759473545
• gnomAD v3: 7-150949084-C-CGGG
• gnomAD v4: 7-150949084-C-CGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150949088_150949090dup , CM000669.2:g.150949088_150949090dup	GRCh38
NC_000007.13:g.150646176_150646178dup , CM000669.1:g.150646176_150646178dup	GRCh37
NC_000007.12:g.150277109_150277111dup	NCBI36
NG_008916.1:g.33840_33842dup , LRG_288:g.33840_33842dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3232-38_3232-36dup
ENST00000262186.10:c.2399-38_2399-36dup MANE Select	ENSP00000262186.5:n.2399-38_2399-36dup
ENST00000330883.9:c.1379-38_1379-36dup	ENSP00000328531.4:n.1379-38_1379-36dup
ENST00000262186.9:c.2399-38_2399-36dup	ENSP00000262186.5:n.2399-38_2399-36dup
ENST00000330883.8:c.1379-38_1379-36dup	ENSP00000328531.4:n.1379-38_1379-36dup
NM_000238.3:c.2399-38_2399-36dup , LRG_288t1:c.2399-38_2399-36dup	NP_000229.1:n.2399-38_2399-36dup
NM_172057.2:c.1379-38_1379-36dup , LRG_288t3:c.1379-38_1379-36dup	NP_742054.1:n.1379-38_1379-36dup
XM_011516185.1:c.2099-38_2099-36dup	XP_011514487.1:n.2099-38_2099-36dup
XM_011516186.1:c.2399-38_2399-36dup	XP_011514488.1:n.2399-38_2399-36dup
XM_011516185.2:c.2099-38_2099-36dup	XP_011514487.1:n.2099-38_2099-36dup
XM_011516186.3:c.2399-38_2399-36dup	XP_011514488.1:n.2399-38_2399-36dup
XM_017012195.1:c.2249-38_2249-36dup	XP_016867684.1:n.2249-38_2249-36dup
XM_017012196.1:c.2222-38_2222-36dup	XP_016867685.1:n.2222-38_2222-36dup
NM_000238.4:c.2399-38_2399-36dup MANE Select	NP_000229.1:n.2399-38_2399-36dup
NM_172057.3:c.1379-38_1379-36dup	NP_742054.1:n.1379-38_1379-36dup