Canonical Allele Identifier: CA578707795

Gene: KCNH2

Linked Data

• dbSNP Id: rs1454144585
• gnomAD v2: 7-150674725-AAACCCTTTGGCC-A
• gnomAD v3: 7-150977637-AAACCCTTTGGCC-A
• gnomAD v4: 7-150977637-AAACCCTTTGGCC-A
• MyVariant Identifiers: chr7:g.150674726_150674737del (hg19) ; chr7:g.150977638_150977649del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150977638_150977649del , CM000669.2:g.150977638_150977649del	GRCh38
NC_000007.13:g.150674726_150674737del , CM000669.1:g.150674726_150674737del	GRCh37
NC_000007.12:g.150305659_150305670del	NCBI36
NG_008916.1:g.5278_5289del , LRG_288:g.5278_5289del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.76+189_76+200del MANE Select	ENSP00000262186.5:n.76+189_76+200del
ENST00000262186.9:c.76+189_76+200del	ENSP00000262186.5:n.76+189_76+200del
ENST00000430723.4:c.-102+189_-102+200del	ENSP00000387657.4:n.-102+189_-102+200del
ENST00000532957.5:n.299+189_299+200del
NM_000238.3:c.76+189_76+200del , LRG_288t1:c.76+189_76+200del	NP_000229.1:n.76+189_76+200del
NM_172056.2:c.76+189_76+200del , LRG_288t2:c.76+189_76+200del	NP_742053.1:n.76+189_76+200del
XM_011516186.1:c.76+189_76+200del	XP_011514488.1:n.76+189_76+200del
XM_011516186.3:c.76+189_76+200del	XP_011514488.1:n.76+189_76+200del
NM_000238.4:c.76+189_76+200del MANE Select	NP_000229.1:n.76+189_76+200del