Canonical Allele Identifier: CA16618408

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 419410
• ClinVar RCV Id: RCV000478962
• dbSNP Id: rs1064793855
• MyVariant Identifiers: chr7:g.150648598del (hg19) ; chr7:g.150951510del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150951511del , CM000669.2:g.150951511del	GRCh38
NC_000007.13:g.150648599del , CM000669.1:g.150648599del	GRCh37
NC_000007.12:g.150279532del	NCBI36
NG_008916.1:g.31417del , LRG_288:g.31417del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461280.2:n.1181del
ENST00000683359.1:n.7del
ENST00000684241.1:n.2716del
ENST00000262186.10:c.1883del MANE Select	ENSP00000262186.5:p.Gly628AlafsTer?
ENST00000330883.9:c.863del	ENSP00000328531.4:p.Gly288AlafsTer?
ENST00000262186.9:c.1883del	ENSP00000262186.5:p.Gly628AlafsTer?
ENST00000330883.8:c.863del	ENSP00000328531.4:p.Gly288AlafsTer?
ENST00000430723.4:c.1535del	ENSP00000387657.4:p.Gly512AlafsTer?
ENST00000461280.1:n.1170del
ENST00000473610.5:n.1188del
ENST00000532957.5:n.2106del
NM_000238.3:c.1883del , LRG_288t1:c.1883del	NP_000229.1:p.Gly628AlafsTer?
NM_001204798.1:c.863del	NP_001191727.1:p.Gly288AlafsTer?
NM_172056.2:c.1883del , LRG_288t2:c.1883del	NP_742053.1:p.Gly628AlafsTer?
NM_172057.2:c.863del , LRG_288t3:c.863del	NP_742054.1:p.Gly288AlafsTer?
XM_011516185.1:c.1583del	XP_011514487.1:p.Gly528AlafsTer?
XM_011516186.1:c.1883del	XP_011514488.1:p.Gly628AlafsTer?
XM_011516185.2:c.1583del	XP_011514487.1:p.Gly528AlafsTer?
XM_011516186.3:c.1883del	XP_011514488.1:p.Gly628AlafsTer?
XM_017012195.1:c.1733del	XP_016867684.1:p.Gly578AlafsTer?
XM_017012196.1:c.1706del	XP_016867685.1:p.Gly569AlafsTer?
NM_000238.4:c.1883del MANE Select	NP_000229.1:p.Gly628AlafsTer?
NM_001204798.2:c.863del	NP_001191727.1:p.Gly288AlafsTer?
NM_172057.3:c.863del	NP_742054.1:p.Gly288AlafsTer?