Canonical Allele Identifier: CA007240

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200664
• ClinVar RCV Id: RCV000181989
• dbSNP Id: rs794728451
• gnomAD v4: 7-150947838-GC-G
• MyVariant Identifiers: chr7:g.150644927del (hg19) ; chr7:g.150947839del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150947841del , CM000669.2:g.150947841del	GRCh38
NC_000007.13:g.150644929del , CM000669.1:g.150644929del	GRCh37
NC_000007.12:g.150275862del	NCBI36
NG_008916.1:g.35088del , LRG_288:g.35088del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684241.1:n.3565del
ENST00000262186.10:c.2732del MANE Select	ENSP00000262186.5:p.Gly911AlafsTer?
ENST00000330883.9:c.1712del	ENSP00000328531.4:p.Gly571AlafsTer?
ENST00000262186.9:c.2732del	ENSP00000262186.5:p.Gly911AlafsTer?
ENST00000330883.8:c.1712del	ENSP00000328531.4:p.Gly571AlafsTer?
NM_000238.3:c.2732del , LRG_288t1:c.2732del	NP_000229.1:p.Gly911AlafsTer?
NM_172057.2:c.1712del , LRG_288t3:c.1712del	NP_742054.1:p.Gly571AlafsTer?
XM_011516185.1:c.2432del	XP_011514487.1:p.Gly811AlafsTer?
XM_011516186.1:c.2693-148del	XP_011514488.1:n.2693-148del
XM_011516185.2:c.2432del	XP_011514487.1:p.Gly811AlafsTer?
XM_011516186.3:c.2693-148del	XP_011514488.1:n.2693-148del
XM_017012195.1:c.2582del	XP_016867684.1:p.Gly861AlafsTer?
XM_017012196.1:c.2555del	XP_016867685.1:p.Gly852AlafsTer?
NM_000238.4:c.2732del MANE Select	NP_000229.1:p.Gly911AlafsTer?
NM_172057.3:c.1712del	NP_742054.1:p.Gly571AlafsTer?