Canonical Allele Identifier: CA379116874
Gene: KCNQ1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.2466564T>G (hg19) chr11:g.2445334T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445334T>G , CM000673.2:g.2445334T>G GRCh38
NC_000011.9:g.2466564T>G , CM000673.1:g.2466564T>G GRCh37
NC_000011.8:g.2423140T>G NCBI36
NG_008935.1:g.5344T>G , LRG_287:g.5344T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-49T>G ENSP00000434560.2:n.24-49T>G
ENST00000646564.2:c.236T>G ENSP00000495806.2:p.Leu79Arg
ENST00000155840.12:c.236T>G MANE Select ENSP00000155840.2:p.Leu79Arg
ENST00000155840.9:c.236T>G ENSP00000155840.2:p.Leu79Arg
ENST00000345015.4:n.13T>G
ENST00000496887.6:c.24-49T>G ENSP00000434560.1:n.24-49T>G
NM_000218.2:c.236T>G , LRG_287t1:c.236T>G NP_000209.2:p.Leu79Arg
NM_000218.3:c.236T>G MANE Select NP_000209.2:p.Leu79Arg
Search 100 bp 5'
Search 100 bp 3'