Canonical Allele Identifier: CA16042588
Gene: KCNH2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372942
ClinVar RCV Id: RCV000414739
dbSNP Id: rs1057518089

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150947007dup , CM000669.2:g.150947007dup GRCh38
NC_000007.13:g.150644095dup , CM000669.1:g.150644095dup GRCh37
NC_000007.12:g.150275028dup NCBI36
NG_008916.1:g.35920dup , LRG_288:g.35920dup

Transcript Alleles

HGVS Amino-acid change
NM_000238.3:c.3200dup , LRG_288t1:c.3200dup
NM_172057.2:c.2180dup , LRG_288t3:c.2180dup
XM_011516185.1:c.2900dup
XM_011516185.2:c.2900dup
XM_017012195.1:c.3050dup
XM_017012196.1:c.3023dup
ENST00000262186.9:c.3200dup
ENST00000330883.8:c.2180dup