Canonical Allele Identifier: CA005231
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 52954
dbSNP Id: rs199473408

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2585266C>A , CM000673.2:g.2585266C>A GRCh38
NC_000011.9:g.2606496C>A , CM000673.1:g.2606496C>A GRCh37
NC_000011.8:g.2563072C>A NCBI36
NG_008935.1:g.145276C>A , LRG_287:g.145276C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.771+1721C>A ENSP00000434560.2:n.771+1721C>A
ENST00000646564.2:c.588+1721C>A ENSP00000495806.2:n.588+1721C>A
ENST00000155840.12:c.1087C>A MANE Select ENSP00000155840.2:p.His363Asn
ENST00000335475.6:c.706C>A ENSP00000334497.5:p.His236Asn
ENST00000646564.1:c.234+1721C>A ENSP00000495806.1:n.234+1721C>A
ENST00000155840.9:c.1087C>A ENSP00000155840.2:p.His363Asn
ENST00000335475.5:c.706C>A ENSP00000334497.5:p.His236Asn
NM_000218.2:c.1087C>A , LRG_287t1:c.1087C>A NP_000209.2:p.His363Asn
NM_181798.1:c.706C>A , LRG_287t2:c.706C>A NP_861463.1:p.His236Asn
NM_000218.3:c.1087C>A MANE Select NP_000209.2:p.His363Asn