Canonical Allele Identifier: CA305305
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 200628
ClinVar RCV Id: RCV000181971
dbSNP Id: rs794728433

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150952832dup , CM000669.2:g.150952832dup GRCh38
NC_000007.13:g.150649920dup , CM000669.1:g.150649920dup GRCh37
NC_000007.12:g.150280853dup NCBI36
NG_008916.1:g.30095dup , LRG_288:g.30095dup

Transcript Alleles

HGVS Amino-acid change
ENST00000461280.2:n.448dup
ENST00000684116.1:n.43dup
ENST00000684241.1:n.1983dup
ENST00000262186.10:c.1150dup MANE Select ENSP00000262186.5:p.Val384GlyfsTer4
ENST00000330883.9:c.130dup ENSP00000328531.4:p.Val44GlyfsTer4
ENST00000262186.9:c.1150dup ENSP00000262186.5:p.Val384GlyfsTer4
ENST00000330883.8:c.130dup ENSP00000328531.4:p.Val44GlyfsTer4
ENST00000430723.4:c.802dup ENSP00000387657.4:p.Val268GlyfsTer4
ENST00000461280.1:n.437dup
ENST00000473610.5:n.455dup
ENST00000532957.5:n.1373dup
NM_000238.3:c.1150dup , LRG_288t1:c.1150dup NP_000229.1:p.Val384GlyfsTer4
NM_001204798.1:c.130dup NP_001191727.1:p.Val44GlyfsTer4
NM_172056.2:c.1150dup , LRG_288t2:c.1150dup NP_742053.1:p.Val384GlyfsTer4
NM_172057.2:c.130dup , LRG_288t3:c.130dup NP_742054.1:p.Val44GlyfsTer4
XM_011516185.1:c.850dup XP_011514487.1:p.Val284GlyfsTer4
XM_011516186.1:c.1150dup XP_011514488.1:p.Val384GlyfsTer4
XM_011516185.2:c.850dup XP_011514487.1:p.Val284GlyfsTer4
XM_011516186.3:c.1150dup XP_011514488.1:p.Val384GlyfsTer4
XM_017012195.1:c.1000dup XP_016867684.1:p.Val334GlyfsTer4
XM_017012196.1:c.973dup XP_016867685.1:p.Val325GlyfsTer4
NM_000238.4:c.1150dup MANE Select NP_000229.1:p.Val384GlyfsTer4
NM_001204798.2:c.130dup NP_001191727.1:p.Val44GlyfsTer4
NM_172057.3:c.130dup NP_742054.1:p.Val44GlyfsTer4