Canonical Allele Identifier: CA579075212

Gene: KCNH2

Linked Data

• dbSNP Id: rs1261286304
• gnomAD v2: 7-150645011-AGAG-A
• gnomAD v4: 7-150947923-AGAG-A
• MyVariant Identifiers: chr7:g.150645012_150645014del (hg19) ; chr7:g.150947924_150947926del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947928_150947930del , CM000669.2:g.150947928_150947930del	GRCh38
NC_000007.13:g.150645016_150645018del , CM000669.1:g.150645016_150645018del	GRCh37
NC_000007.12:g.150275949_150275951del	NCBI36
NG_008916.1:g.35001_35003del , LRG_288:g.35001_35003del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3526-48_3526-46del
ENST00000262186.10:c.2693-48_2693-46del MANE Select	ENSP00000262186.5:n.2693-48_2693-46del
ENST00000330883.9:c.1673-48_1673-46del	ENSP00000328531.4:n.1673-48_1673-46del
ENST00000262186.9:c.2693-48_2693-46del	ENSP00000262186.5:n.2693-48_2693-46del
ENST00000330883.8:c.1673-48_1673-46del	ENSP00000328531.4:n.1673-48_1673-46del
NM_000238.3:c.2693-48_2693-46del , LRG_288t1:c.2693-48_2693-46del	NP_000229.1:n.2693-48_2693-46del
NM_172057.2:c.1673-48_1673-46del , LRG_288t3:c.1673-48_1673-46del	NP_742054.1:n.1673-48_1673-46del
XM_011516185.1:c.2393-48_2393-46del	XP_011514487.1:n.2393-48_2393-46del
XM_011516186.1:c.2693-235_2693-233del	XP_011514488.1:n.2693-235_2693-233del
XM_011516185.2:c.2393-48_2393-46del	XP_011514487.1:n.2393-48_2393-46del
XM_011516186.3:c.2693-235_2693-233del	XP_011514488.1:n.2693-235_2693-233del
XM_017012195.1:c.2543-48_2543-46del	XP_016867684.1:n.2543-48_2543-46del
XM_017012196.1:c.2516-48_2516-46del	XP_016867685.1:n.2516-48_2516-46del
NM_000238.4:c.2693-48_2693-46del MANE Select	NP_000229.1:n.2693-48_2693-46del
NM_172057.3:c.1673-48_1673-46del	NP_742054.1:n.1673-48_1673-46del