Canonical Allele Identifier: CA008725

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200610
• ClinVar RCV Id: RCV000181962
• dbSNP Id: rs794728424
• MyVariant Identifiers: chr7:g.150655331del (hg19) ; chr7:g.150958243del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150958243del , CM000669.2:g.150958243del	GRCh38
NC_000007.13:g.150655331del , CM000669.1:g.150655331del	GRCh37
NC_000007.12:g.150286264del	NCBI36
NG_008916.1:g.24684del , LRG_288:g.24684del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.1565del
ENST00000262186.10:c.732del MANE Select	ENSP00000262186.5:p.Gly246AlafsTer?
ENST00000262186.9:c.732del	ENSP00000262186.5:p.Gly246AlafsTer?
ENST00000430723.4:c.384del	ENSP00000387657.4:p.Gly130AlafsTer?
ENST00000532957.5:n.955del
NM_000238.3:c.732del , LRG_288t1:c.732del	NP_000229.1:p.Gly246AlafsTer?
NM_172056.2:c.732del , LRG_288t2:c.732del	NP_742053.1:p.Gly246AlafsTer?
XM_011516185.1:c.432del	XP_011514487.1:p.Gly146AlafsTer?
XM_011516186.1:c.732del	XP_011514488.1:p.Gly246AlafsTer?
XM_011516185.2:c.432del	XP_011514487.1:p.Gly146AlafsTer?
XM_011516186.3:c.732del	XP_011514488.1:p.Gly246AlafsTer?
XM_017012195.1:c.582del	XP_016867684.1:p.Gly196AlafsTer?
XM_017012196.1:c.555del	XP_016867685.1:p.Gly187AlafsTer?
NM_000238.4:c.732del MANE Select	NP_000229.1:p.Gly246AlafsTer?