Canonical Allele Identifier: CA3186922947
Community Standard Title: NM_000218.3(KCNQ1):c.1867A= (p.Ser623=)
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847839A= , CM000673.2:g.2847839A= GRCh38
NC_000011.9:g.2869069A= , CM000673.1:g.2869069A= GRCh37
NC_000011.8:g.2825645A= NCBI36
NG_008935.1:g.407849A= , LRG_287:g.407849A=

Transcript Alleles

HGVS Amino-acid Change
NM_000218.3:c.1867A= (KCNQ1) MANE Select NP_000209.2:p.Ser623=
ENST00000155840.12:c.1867A= (KCNQ1) MANE Select ENSP00000155840.2:p.Ser623=
NM_000218.2:c.1867A= , LRG_287t1:c.1867A= (KCNQ1) NP_000209.2:p.Ser623=
NM_181798.1:c.1486A= , LRG_287t2:c.1486A= (KCNQ1) NP_861463.1:p.Ser496=
NR_130721.1:n.778-7397T= (KCNQ1-AS1)
ENST00000155840.9:c.1867A= (KCNQ1) ENSP00000155840.2:p.Ser623=
ENST00000335475.5:c.1486A= (KCNQ1) ENSP00000334497.5:p.Ser496=
ENST00000335475.6:c.1486A= (KCNQ1) ENSP00000334497.5:p.Ser496=
ENST00000496887.7:c.1510A= (KCNQ1) ENSP00000434560.2:p.Ser504=
ENST00000526095.1:n.374A= (KCNQ1)
ENST00000526095.2:c.271A= (KCNQ1) ENSP00000494939.1:p.Ser91=
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