Canonical Allele Identifier: CA16605725
Gene: KCNH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 387850
ClinVar RCV Id: RCV000418102
dbSNP Id: rs1057522921

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.150948439C>A , CM000669.2:g.150948439C>A GRCh38
NC_000007.13:g.150645527C>A , CM000669.1:g.150645527C>A GRCh37
NC_000007.12:g.150276460C>A NCBI36
NG_008916.1:g.34488G>T , LRG_288:g.34488G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000684241.1:n.3525+5G>T
ENST00000262186.10:c.2692+5G>T MANE Select ENSP00000262186.5:n.2692+5G>T
ENST00000330883.9:c.1672+5G>T ENSP00000328531.4:n.1672+5G>T
ENST00000262186.9:c.2692+5G>T ENSP00000262186.5:n.2692+5G>T
ENST00000330883.8:c.1672+5G>T ENSP00000328531.4:n.1672+5G>T
NM_000238.3:c.2692+5G>T , LRG_288t1:c.2692+5G>T NP_000229.1:n.2692+5G>T
NM_172057.2:c.1672+5G>T , LRG_288t3:c.1672+5G>T NP_742054.1:n.1672+5G>T
XM_011516185.1:c.2392+5G>T XP_011514487.1:n.2392+5G>T
XM_011516186.1:c.2692+5G>T XP_011514488.1:n.2692+5G>T
XM_011516185.2:c.2392+5G>T XP_011514487.1:n.2392+5G>T
XM_011516186.3:c.2692+5G>T XP_011514488.1:n.2692+5G>T
XM_017012195.1:c.2542+5G>T XP_016867684.1:n.2542+5G>T
XM_017012196.1:c.2515+5G>T XP_016867685.1:n.2515+5G>T
NM_000238.4:c.2692+5G>T MANE Select NP_000229.1:n.2692+5G>T
NM_172057.3:c.1672+5G>T NP_742054.1:n.1672+5G>T