Canonical Allele Identifier: CA835222866

Gene: KCNH2

Linked Data

• dbSNP Id: rs1231503017
• gnomAD v4: 7-150948026-CCACT-C
• MyVariant Identifiers: chr7:g.150645115_150645118del (hg19) ; chr7:g.150948027_150948030del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948027_150948030del , CM000669.2:g.150948027_150948030del	GRCh38
NC_000007.13:g.150645115_150645118del , CM000669.1:g.150645115_150645118del	GRCh37
NC_000007.12:g.150276048_150276051del	NCBI36
NG_008916.1:g.34897_34900del , LRG_288:g.34897_34900del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3526-152_3526-149del
ENST00000262186.10:c.2693-152_2693-149del MANE Select	ENSP00000262186.5:n.2693-152_2693-149del
ENST00000330883.9:c.1673-152_1673-149del	ENSP00000328531.4:n.1673-152_1673-149del
ENST00000262186.9:c.2693-152_2693-149del	ENSP00000262186.5:n.2693-152_2693-149del
ENST00000330883.8:c.1673-152_1673-149del	ENSP00000328531.4:n.1673-152_1673-149del
NM_000238.3:c.2693-152_2693-149del , LRG_288t1:c.2693-152_2693-149del	NP_000229.1:n.2693-152_2693-149del
NM_172057.2:c.1673-152_1673-149del , LRG_288t3:c.1673-152_1673-149del	NP_742054.1:n.1673-152_1673-149del
XM_011516185.1:c.2393-152_2393-149del	XP_011514487.1:n.2393-152_2393-149del
XM_011516186.1:c.2693-339_2693-336del	XP_011514488.1:n.2693-339_2693-336del
XM_011516185.2:c.2393-152_2393-149del	XP_011514487.1:n.2393-152_2393-149del
XM_011516186.3:c.2693-339_2693-336del	XP_011514488.1:n.2693-339_2693-336del
XM_017012195.1:c.2543-152_2543-149del	XP_016867684.1:n.2543-152_2543-149del
XM_017012196.1:c.2516-152_2516-149del	XP_016867685.1:n.2516-152_2516-149del
NM_000238.4:c.2693-152_2693-149del MANE Select	NP_000229.1:n.2693-152_2693-149del
NM_172057.3:c.1673-152_1673-149del	NP_742054.1:n.1673-152_1673-149del