Canonical Allele Identifier: CA1948349627
Community Standard Title: NM_000218.3(KCNQ1):c.1871C= (p.Thr624=)
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847843C= , CM000673.2:g.2847843C= GRCh38
NC_000011.9:g.2869073C= , CM000673.1:g.2869073C= GRCh37
NC_000011.8:g.2825649C= NCBI36
NG_008935.1:g.407853C= , LRG_287:g.407853C=

Transcript Alleles

HGVS Amino-acid Change
NM_000218.3:c.1871C= (KCNQ1) MANE Select NP_000209.2:p.Thr624=
ENST00000155840.12:c.1871C= (KCNQ1) MANE Select ENSP00000155840.2:p.Thr624=
NM_000218.2:c.1871C= , LRG_287t1:c.1871C= (KCNQ1) NP_000209.2:p.Thr624=
NM_181798.1:c.1490C= , LRG_287t2:c.1490C= (KCNQ1) NP_861463.1:p.Thr497=
NR_130721.1:n.778-7401G= (KCNQ1-AS1)
ENST00000155840.9:c.1871C= (KCNQ1) ENSP00000155840.2:p.Thr624=
ENST00000335475.5:c.1490C= (KCNQ1) ENSP00000334497.5:p.Thr497=
ENST00000335475.6:c.1490C= (KCNQ1) ENSP00000334497.5:p.Thr497=
ENST00000496887.7:c.1514C= (KCNQ1) ENSP00000434560.2:p.Thr505=
ENST00000526095.1:n.378C= (KCNQ1)
ENST00000526095.2:c.275C= (KCNQ1) ENSP00000494939.1:p.Thr92=
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