Canonical Allele Identifier: CA379116854
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 943522
ClinVar RCV Id: RCV001213724
dbSNP Id: rs1846021008
gnomAD v3: 11-2445331-A-C
gnomAD v4: 11-2445331-A-C
MyVariant Identifiers: chr11:g.2466561A>C (hg19) chr11:g.2445331A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445331A>C , CM000673.2:g.2445331A>C GRCh38
NC_000011.9:g.2466561A>C , CM000673.1:g.2466561A>C GRCh37
NC_000011.8:g.2423137A>C NCBI36
NG_008935.1:g.5341A>C , LRG_287:g.5341A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-52A>C ENSP00000434560.2:n.24-52A>C
ENST00000646564.2:c.233A>C ENSP00000495806.2:p.Asp78Ala
ENST00000155840.12:c.233A>C MANE Select ENSP00000155840.2:p.Asp78Ala
ENST00000155840.9:c.233A>C ENSP00000155840.2:p.Asp78Ala
ENST00000345015.4:n.10A>C
ENST00000496887.6:c.24-52A>C ENSP00000434560.1:n.24-52A>C
NM_000218.2:c.233A>C , LRG_287t1:c.233A>C NP_000209.2:p.Asp78Ala
NM_000218.3:c.233A>C MANE Select NP_000209.2:p.Asp78Ala
Search 100 bp 5'
Search 100 bp 3'