Canonical Allele Identifier: CA008204

Gene: KCNH2

Linked Data

• ClinVar Variation Id: 200264
• ClinVar RCV Id: RCV001842816
• dbSNP Id: rs794728348
• MyVariant Identifiers: chr7:g.150642615del (hg19) ; chr7:g.150945527del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150945527del , CM000669.2:g.150945527del	GRCh38
NC_000007.13:g.150642615del , CM000669.1:g.150642615del	GRCh37
NC_000007.12:g.150273548del	NCBI36
NG_008916.1:g.37400del , LRG_288:g.37400del

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.4164-13del
ENST00000262186.10:c.3331-13del MANE Select	ENSP00000262186.5:n.3331-13del
ENST00000330883.9:c.2311-13del	ENSP00000328531.4:n.2311-13del
ENST00000262186.9:c.3331-13del	ENSP00000262186.5:n.3331-13del
ENST00000330883.8:c.2311-13del	ENSP00000328531.4:n.2311-13del
NM_000238.3:c.3331-13del , LRG_288t1:c.3331-13del	NP_000229.1:n.3331-13del
NM_172057.2:c.2311-13del , LRG_288t3:c.2311-13del	NP_742054.1:n.2311-13del
XM_011516185.1:c.3031-13del	XP_011514487.1:n.3031-13del
XM_011516185.2:c.3031-13del	XP_011514487.1:n.3031-13del
XM_017012195.1:c.3181-13del	XP_016867684.1:n.3181-13del
XM_017012196.1:c.3154-13del	XP_016867685.1:n.3154-13del
NM_000238.4:c.3331-13del MANE Select	NP_000229.1:n.3331-13del
NM_172057.3:c.2311-13del	NP_742054.1:n.2311-13del