Canonical Allele Identifier: CA1108709317

Gene: KCNH2

Linked Data

• gnomAD v3: 7-150974651-CGTGGT-C
• gnomAD v4: 7-150974651-CGTGGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150974652_150974656del , CM000669.2:g.150974652_150974656del	GRCh38
NC_000007.13:g.150671740_150671744del , CM000669.1:g.150671740_150671744del	GRCh37
NC_000007.12:g.150302673_150302677del	NCBI36
NG_008916.1:g.8271_8275del , LRG_288:g.8271_8275del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262186.10:c.307+55_307+59del MANE Select	ENSP00000262186.5:n.307+55_307+59del
ENST00000262186.9:c.307+55_307+59del	ENSP00000262186.5:n.307+55_307+59del
ENST00000430723.4:c.130+55_130+59del	ENSP00000387657.4:n.130+55_130+59del
ENST00000532957.5:n.530+55_530+59del
NM_000238.3:c.307+55_307+59del , LRG_288t1:c.307+55_307+59del	NP_000229.1:n.307+55_307+59del
NM_172056.2:c.307+55_307+59del , LRG_288t2:c.307+55_307+59del	NP_742053.1:n.307+55_307+59del
XM_011516186.1:c.307+55_307+59del	XP_011514488.1:n.307+55_307+59del
XM_011516186.3:c.307+55_307+59del	XP_011514488.1:n.307+55_307+59del
XM_017012196.1:c.130+55_130+59del	XP_016867685.1:n.130+55_130+59del
NM_000238.4:c.307+55_307+59del MANE Select	NP_000229.1:n.307+55_307+59del