Canonical Allele Identifier: CA004447

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200632
• ClinVar RCV Id: RCV000181973
• dbSNP Id: rs794728435
• MyVariant Identifiers: chr7:g.150649754del (hg19) ; chr7:g.150952666del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150952667del , CM000669.2:g.150952667del	GRCh38
NC_000007.13:g.150649755del , CM000669.1:g.150649755del	GRCh37
NC_000007.12:g.150280688del	NCBI36
NG_008916.1:g.30261del , LRG_288:g.30261del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.614del
ENST00000684116.1:n.209del
ENST00000684241.1:n.2149del
ENST00000262186.10:c.1316del MANE Select	ENSP00000262186.5:p.Gly439AlafsTer?
ENST00000330883.9:c.296del	ENSP00000328531.4:p.Gly99AlafsTer?
ENST00000262186.9:c.1316del	ENSP00000262186.5:p.Gly439AlafsTer?
ENST00000330883.8:c.296del	ENSP00000328531.4:p.Gly99AlafsTer?
ENST00000430723.4:c.968del	ENSP00000387657.4:p.Gly323AlafsTer?
ENST00000461280.1:n.603del
ENST00000473610.5:n.621del
ENST00000532957.5:n.1539del
NM_000238.3:c.1316del , LRG_288t1:c.1316del	NP_000229.1:p.Gly439AlafsTer?
NM_001204798.1:c.296del	NP_001191727.1:p.Gly99AlafsTer?
NM_172056.2:c.1316del , LRG_288t2:c.1316del	NP_742053.1:p.Gly439AlafsTer?
NM_172057.2:c.296del , LRG_288t3:c.296del	NP_742054.1:p.Gly99AlafsTer?
XM_011516185.1:c.1016del	XP_011514487.1:p.Gly339AlafsTer?
XM_011516186.1:c.1316del	XP_011514488.1:p.Gly439AlafsTer?
XM_011516185.2:c.1016del	XP_011514487.1:p.Gly339AlafsTer?
XM_011516186.3:c.1316del	XP_011514488.1:p.Gly439AlafsTer?
XM_017012195.1:c.1166del	XP_016867684.1:p.Gly389AlafsTer?
XM_017012196.1:c.1139del	XP_016867685.1:p.Gly380AlafsTer?
NM_000238.4:c.1316del MANE Select	NP_000229.1:p.Gly439AlafsTer?
NM_001204798.2:c.296del	NP_001191727.1:p.Gly99AlafsTer?
NM_172057.3:c.296del	NP_742054.1:p.Gly99AlafsTer?