Canonical Allele Identifier: CA472416210
Gene: KCNQ1 HGNC NCBI

Linked Data

gnomAD v4: 11-2445365-G-C
MyVariant Identifiers: chr11:g.2466595G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445365G>C , CM000673.2:g.2445365G>C GRCh38
NC_000011.9:g.2466595G>C , CM000673.1:g.2466595G>C GRCh37
NC_000011.8:g.2423171G>C NCBI36
NG_008935.1:g.5375G>C , LRG_287:g.5375G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.24-18G>C ENSP00000434560.2:n.24-18G>C
ENST00000646564.2:c.267G>C ENSP00000495806.2:p.Pro89=
ENST00000155840.12:c.267G>C MANE Select ENSP00000155840.2:p.Pro89=
ENST00000155840.9:c.267G>C ENSP00000155840.2:p.Pro89=
ENST00000345015.4:n.44G>C
ENST00000496887.6:c.24-18G>C ENSP00000434560.1:n.24-18G>C
NM_000218.2:c.267G>C , LRG_287t1:c.267G>C NP_000209.2:p.Pro89=
NM_000218.3:c.267G>C MANE Select NP_000209.2:p.Pro89=
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