Canonical Allele Identifier: CA006819
Community Standard Title: NM_000218.3(KCNQ1):c.341T>C (p.Leu114Pro)
Gene: KCNQ1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445439T>C , CM000673.2:g.2445439T>C GRCh38
NC_000011.9:g.2466669T>C , CM000673.1:g.2466669T>C GRCh37
NC_000011.8:g.2423245T>C NCBI36
NG_008935.1:g.5449T>C , LRG_287:g.5449T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000218.3:c.341T>C MANE Select NP_000209.2:p.Leu114Pro
ENST00000155840.12:c.341T>C MANE Select ENSP00000155840.2:p.Leu114Pro
NM_000218.2:c.341T>C , LRG_287t1:c.341T>C NP_000209.2:p.Leu114Pro
ENST00000155840.9:c.341T>C ENSP00000155840.2:p.Leu114Pro
ENST00000345015.4:n.118T>C
ENST00000496887.6:c.80T>C ENSP00000434560.1:p.Leu27Pro
ENST00000496887.7:c.80T>C ENSP00000434560.2:p.Leu27Pro
ENST00000646564.2:c.341T>C ENSP00000495806.2:p.Leu114Pro
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