Canonical Allele Identifier: CA1108709294

Gene: KCNH2

Linked Data

• dbSNP Id: rs1801925287
• gnomAD v3: 7-150974632-CACG-C
• gnomAD v4: 7-150974632-CACG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974633_150974635del , CM000669.2:g.150974633_150974635del	GRCh38
NC_000007.13:g.150671721_150671723del , CM000669.1:g.150671721_150671723del	GRCh37
NC_000007.12:g.150302654_150302656del	NCBI36
NG_008916.1:g.8292_8294del , LRG_288:g.8292_8294del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.307+76_307+78del MANE Select	ENSP00000262186.5:n.307+76_307+78del
ENST00000262186.9:c.307+76_307+78del	ENSP00000262186.5:n.307+76_307+78del
ENST00000430723.4:c.130+76_130+78del	ENSP00000387657.4:n.130+76_130+78del
ENST00000532957.5:n.530+76_530+78del
NM_000238.3:c.307+76_307+78del , LRG_288t1:c.307+76_307+78del	NP_000229.1:n.307+76_307+78del
NM_172056.2:c.307+76_307+78del , LRG_288t2:c.307+76_307+78del	NP_742053.1:n.307+76_307+78del
XM_011516186.1:c.307+76_307+78del	XP_011514488.1:n.307+76_307+78del
XM_011516186.3:c.307+76_307+78del	XP_011514488.1:n.307+76_307+78del
XM_017012196.1:c.130+76_130+78del	XP_016867685.1:n.130+76_130+78del
NM_000238.4:c.307+76_307+78del MANE Select	NP_000229.1:n.307+76_307+78del