Canonical Allele Identifier: CA379133956
Community Standard Title: NM_000218.3(KCNQ1):c.1120C>T (p.Leu374Phe)
Gene: KCNQ1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2585299C>T , CM000673.2:g.2585299C>T GRCh38
NC_000011.9:g.2606529C>T , CM000673.1:g.2606529C>T GRCh37
NC_000011.8:g.2563105C>T NCBI36
NG_008935.1:g.145309C>T , LRG_287:g.145309C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000218.3:c.1120C>T MANE Select NP_000209.2:p.Leu374Phe
ENST00000155840.12:c.1120C>T MANE Select ENSP00000155840.2:p.Leu374Phe
NM_000218.2:c.1120C>T , LRG_287t1:c.1120C>T NP_000209.2:p.Leu374Phe
NM_181798.1:c.739C>T , LRG_287t2:c.739C>T NP_861463.1:p.Leu247Phe
ENST00000155840.9:c.1120C>T ENSP00000155840.2:p.Leu374Phe
ENST00000335475.5:c.739C>T ENSP00000334497.5:p.Leu247Phe
ENST00000335475.6:c.739C>T ENSP00000334497.5:p.Leu247Phe
ENST00000496887.7:c.771+1754C>T ENSP00000434560.2:n.771+1754C>T
ENST00000646564.1:c.234+1754C>T ENSP00000495806.1:n.234+1754C>T
ENST00000646564.2:c.588+1754C>T ENSP00000495806.2:n.588+1754C>T
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