Canonical Allele Identifier: CA1948349622
Community Standard Title: NM_000218.3(KCNQ1):c.1866C= (p.Gly622=)
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847838C= , CM000673.2:g.2847838C= GRCh38
NC_000011.9:g.2869068C= , CM000673.1:g.2869068C= GRCh37
NC_000011.8:g.2825644C= NCBI36
NG_008935.1:g.407848C= , LRG_287:g.407848C=

Transcript Alleles

HGVS Amino-acid Change
NM_000218.3:c.1866C= (KCNQ1) MANE Select NP_000209.2:p.Gly622=
ENST00000155840.12:c.1866C= (KCNQ1) MANE Select ENSP00000155840.2:p.Gly622=
NM_000218.2:c.1866C= , LRG_287t1:c.1866C= (KCNQ1) NP_000209.2:p.Gly622=
NM_181798.1:c.1485C= , LRG_287t2:c.1485C= (KCNQ1) NP_861463.1:p.Gly495=
NR_130721.1:n.778-7396G= (KCNQ1-AS1)
ENST00000155840.9:c.1866C= (KCNQ1) ENSP00000155840.2:p.Gly622=
ENST00000335475.5:c.1485C= (KCNQ1) ENSP00000334497.5:p.Gly495=
ENST00000335475.6:c.1485C= (KCNQ1) ENSP00000334497.5:p.Gly495=
ENST00000496887.7:c.1509C= (KCNQ1) ENSP00000434560.2:p.Gly503=
ENST00000526095.1:n.373C= (KCNQ1)
ENST00000526095.2:c.270C= (KCNQ1) ENSP00000494939.1:p.Gly90=
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