Canonical Allele Identifier: CA16042588
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 372942
ClinVar RCV Id: RCV000414739
dbSNP Id: rs1057518089
MyVariant Identifiers: chr7:g.150644095dupA (hg19) chr7:g.150644094_150644095insA (hg19) chr7:g.150947007dupA (hg38) chr7:g.150947006_150947007insA (hg38)
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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
ENST00000684241.1:n.4033dup
ENST00000262186.10:c.3200dup MANE Select ENSP00000262186.5:p.Gln1068ThrfsTer?
ENST00000330883.9:c.2180dup ENSP00000328531.4:p.Gln728ThrfsTer?
ENST00000262186.9:c.3200dup ENSP00000262186.5:p.Gln1068ThrfsTer?
ENST00000330883.8:c.2180dup ENSP00000328531.4:p.Gln728ThrfsTer?
NM_000238.3:c.3200dup , LRG_288t1:c.3200dup NP_000229.1:p.Gln1068ThrfsTer?
NM_172057.2:c.2180dup , LRG_288t3:c.2180dup NP_742054.1:p.Gln728ThrfsTer?
XM_011516185.1:c.2900dup XP_011514487.1:p.Gln968ThrfsTer?
XM_011516185.2:c.2900dup XP_011514487.1:p.Gln968ThrfsTer?
XM_017012195.1:c.3050dup XP_016867684.1:p.Gln1018ThrfsTer?
XM_017012196.1:c.3023dup XP_016867685.1:p.Gln1009ThrfsTer?
NM_000238.4:c.3200dup MANE Select NP_000229.1:p.Gln1068ThrfsTer?
NM_172057.3:c.2180dup NP_742054.1:p.Gln728ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'