Canonical Allele Identifier: CA007045
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67072
dbSNP Id: rs199472687

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2527962G>A , CM000673.2:g.2527962G>A GRCh38
NC_000011.9:g.2549192G>A , CM000673.1:g.2549192G>A GRCh37
NC_000011.8:g.2505768G>A NCBI36
NG_008935.1:g.87972G>A , LRG_287:g.87972G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000155840.12:c.421G>A MANE Select ENSP00000155840.2:p.Val141Met
ENST00000335475.6:c.40G>A ENSP00000334497.5:p.Val14Met
ENST00000646564.1:n.67G>A ENSP00000495806.1:p.Val23Met
ENST00000155840.9:c.421G>A ENSP00000155840.2:p.Val141Met
ENST00000335475.5:c.40G>A ENSP00000334497.5:p.Val14Met
ENST00000345015.4:n.290G>A
ENST00000380776.4:c.211G>A ENSP00000370153.4:p.Val71Met
ENST00000496887.6:c.160G>A ENSP00000434560.1:p.Val54Met
NM_000218.2:c.421G>A , LRG_287t1:c.421G>A NP_000209.2:p.Val141Met
NM_181798.1:c.40G>A , LRG_287t2:c.40G>A NP_861463.1:p.Val14Met
NM_000218.3:c.421G>A MANE Select NP_000209.2:p.Val141Met