Canonical Allele Identifier: CA578707799

Gene: KCNH2

Linked Data

• dbSNP Id: rs1372179377
• gnomAD v2: 7-150674735-GCCCGGTGCCCACGGC-G
• gnomAD v3: 7-150977647-GCCCGGTGCCCACGGC-G
• gnomAD v4: 7-150977647-GCCCGGTGCCCACGGC-G
• MyVariant Identifiers: chr7:g.150674736_150674750del (hg19) ; chr7:g.150977648_150977662del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977656_150977670del , CM000669.2:g.150977656_150977670del	GRCh38
NC_000007.13:g.150674744_150674758del , CM000669.1:g.150674744_150674758del	GRCh37
NC_000007.12:g.150305677_150305691del	NCBI36
NG_008916.1:g.5265_5279del , LRG_288:g.5265_5279del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.76+176_76+190del MANE Select	ENSP00000262186.5:n.76+176_76+190del
ENST00000262186.9:c.76+176_76+190del	ENSP00000262186.5:n.76+176_76+190del
ENST00000430723.4:c.-102+176_-102+190del	ENSP00000387657.4:n.-102+176_-102+190del
ENST00000532957.5:n.299+176_299+190del
NM_000238.3:c.76+176_76+190del , LRG_288t1:c.76+176_76+190del	NP_000229.1:n.76+176_76+190del
NM_172056.2:c.76+176_76+190del , LRG_288t2:c.76+176_76+190del	NP_742053.1:n.76+176_76+190del
XM_011516186.1:c.76+176_76+190del	XP_011514488.1:n.76+176_76+190del
XM_011516186.3:c.76+176_76+190del	XP_011514488.1:n.76+176_76+190del
NM_000238.4:c.76+176_76+190del MANE Select	NP_000229.1:n.76+176_76+190del