Canonical Allele Identifier: CA578701936

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 1987939
• ClinVar RCV Id: RCV002781045
• dbSNP Id: rs1263216122
• gnomAD v2: 7-150645639-CA-C
• gnomAD v3: 7-150948551-CA-C
• gnomAD v4: 7-150948551-CA-C
• MyVariant Identifiers: chr7:g.150645640del (hg19) ; chr7:g.150948552del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150948555del , CM000669.2:g.150948555del	GRCh38
NC_000007.13:g.150645643del , CM000669.1:g.150645643del	GRCh37
NC_000007.12:g.150276576del	NCBI36
NG_008916.1:g.34375del , LRG_288:g.34375del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3426-9del
ENST00000262186.10:c.2593-9del MANE Select	ENSP00000262186.5:n.2593-9del
ENST00000330883.9:c.1573-9del	ENSP00000328531.4:n.1573-9del
ENST00000262186.9:c.2593-9del	ENSP00000262186.5:n.2593-9del
ENST00000330883.8:c.1573-9del	ENSP00000328531.4:n.1573-9del
NM_000238.3:c.2593-9del , LRG_288t1:c.2593-9del	NP_000229.1:n.2593-9del
NM_172057.2:c.1573-9del , LRG_288t3:c.1573-9del	NP_742054.1:n.1573-9del
XM_011516185.1:c.2293-9del	XP_011514487.1:n.2293-9del
XM_011516186.1:c.2593-9del	XP_011514488.1:n.2593-9del
XM_011516185.2:c.2293-9del	XP_011514487.1:n.2293-9del
XM_011516186.3:c.2593-9del	XP_011514488.1:n.2593-9del
XM_017012195.1:c.2443-9del	XP_016867684.1:n.2443-9del
XM_017012196.1:c.2416-9del	XP_016867685.1:n.2416-9del
NM_000238.4:c.2593-9del MANE Select	NP_000229.1:n.2593-9del
NM_172057.3:c.1573-9del	NP_742054.1:n.1573-9del