Canonical Allele Identifier: CA379115747
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 979113
ClinVar RCV Id: RCV001258175
dbSNP Id: rs1469698360
gnomAD v3: 11-2445124-G-C
gnomAD v4: 11-2445124-G-C
MyVariant Identifiers: chr11:g.2466354G>C (hg19) chr11:g.2445124G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445124G>C , CM000673.2:g.2445124G>C GRCh38
NC_000011.9:g.2466354G>C , CM000673.1:g.2466354G>C GRCh37
NC_000011.8:g.2422930G>C NCBI36
NG_008935.1:g.5134G>C , LRG_287:g.5134G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-259G>C ENSP00000434560.2:n.24-259G>C
ENST00000646564.2:c.26G>C ENSP00000495806.2:p.Arg9Thr
ENST00000155840.12:c.26G>C MANE Select ENSP00000155840.2:p.Arg9Thr
ENST00000155840.9:c.26G>C ENSP00000155840.2:p.Arg9Thr
ENST00000496887.6:c.24-259G>C ENSP00000434560.1:n.24-259G>C
NM_000218.2:c.26G>C , LRG_287t1:c.26G>C NP_000209.2:p.Arg9Thr
NM_000218.3:c.26G>C MANE Select NP_000209.2:p.Arg9Thr
Search 100 bp 5'
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