Canonical Allele Identifier: CA2685602176

Gene: KCNH2

Linked Data

• gnomAD v4: 7-150947918-AAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947920_150947921del , CM000669.2:g.150947920_150947921del	GRCh38
NC_000007.13:g.150645008_150645009del , CM000669.1:g.150645008_150645009del	GRCh37
NC_000007.12:g.150275941_150275942del	NCBI36
NG_008916.1:g.35007_35008del , LRG_288:g.35007_35008del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3526-42_3526-41del
ENST00000262186.10:c.2693-42_2693-41del MANE Select	ENSP00000262186.5:n.2693-42_2693-41del
ENST00000330883.9:c.1673-42_1673-41del	ENSP00000328531.4:n.1673-42_1673-41del
ENST00000262186.9:c.2693-42_2693-41del	ENSP00000262186.5:n.2693-42_2693-41del
ENST00000330883.8:c.1673-42_1673-41del	ENSP00000328531.4:n.1673-42_1673-41del
NM_000238.3:c.2693-42_2693-41del , LRG_288t1:c.2693-42_2693-41del	NP_000229.1:n.2693-42_2693-41del
NM_172057.2:c.1673-42_1673-41del , LRG_288t3:c.1673-42_1673-41del	NP_742054.1:n.1673-42_1673-41del
XM_011516185.1:c.2393-42_2393-41del	XP_011514487.1:n.2393-42_2393-41del
XM_011516186.1:c.2693-229_2693-228del	XP_011514488.1:n.2693-229_2693-228del
XM_011516185.2:c.2393-42_2393-41del	XP_011514487.1:n.2393-42_2393-41del
XM_011516186.3:c.2693-229_2693-228del	XP_011514488.1:n.2693-229_2693-228del
XM_017012195.1:c.2543-42_2543-41del	XP_016867684.1:n.2543-42_2543-41del
XM_017012196.1:c.2516-42_2516-41del	XP_016867685.1:n.2516-42_2516-41del
NM_000238.4:c.2693-42_2693-41del MANE Select	NP_000229.1:n.2693-42_2693-41del
NM_172057.3:c.1673-42_1673-41del	NP_742054.1:n.1673-42_1673-41del