Canonical Allele Identifier: CA2685602179

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947920-CAGAGAGGAGGGGGCGAGGGTGGAGGAGGGGACAGGAGCGAGCCCG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947929_150947973del , CM000669.2:g.150947929_150947973del	GRCh38
NC_000007.13:g.150645017_150645061del , CM000669.1:g.150645017_150645061del	GRCh37
NC_000007.12:g.150275950_150275994del	NCBI36
NG_008916.1:g.34962_35006del , LRG_288:g.34962_35006del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3526-87_3526-43del
ENST00000262186.10:c.2693-87_2693-43del MANE Select	ENSP00000262186.5:n.2693-87_2693-43del
ENST00000330883.9:c.1673-87_1673-43del	ENSP00000328531.4:n.1673-87_1673-43del
ENST00000262186.9:c.2693-87_2693-43del	ENSP00000262186.5:n.2693-87_2693-43del
ENST00000330883.8:c.1673-87_1673-43del	ENSP00000328531.4:n.1673-87_1673-43del
NM_000238.3:c.2693-87_2693-43del , LRG_288t1:c.2693-87_2693-43del	NP_000229.1:n.2693-87_2693-43del
NM_172057.2:c.1673-87_1673-43del , LRG_288t3:c.1673-87_1673-43del	NP_742054.1:n.1673-87_1673-43del
XM_011516185.1:c.2393-87_2393-43del	XP_011514487.1:n.2393-87_2393-43del
XM_011516186.1:c.2693-274_2693-230del	XP_011514488.1:n.2693-274_2693-230del
XM_011516185.2:c.2393-87_2393-43del	XP_011514487.1:n.2393-87_2393-43del
XM_011516186.3:c.2693-274_2693-230del	XP_011514488.1:n.2693-274_2693-230del
XM_017012195.1:c.2543-87_2543-43del	XP_016867684.1:n.2543-87_2543-43del
XM_017012196.1:c.2516-87_2516-43del	XP_016867685.1:n.2516-87_2516-43del
NM_000238.4:c.2693-87_2693-43del MANE Select	NP_000229.1:n.2693-87_2693-43del
NM_172057.3:c.1673-87_1673-43del	NP_742054.1:n.1673-87_1673-43del