Canonical Allele Identifier: CA1948349921
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848319C= , CM000673.2:g.2848319C= GRCh38
NC_000011.9:g.2869549C= , CM000673.1:g.2869549C= GRCh37
NC_000011.8:g.2826125C= NCBI36
NG_008935.1:g.408329C= , LRG_287:g.408329C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.*316C= (KCNQ1) ENSP00000434560.2:n.*316C=
ENST00000155840.12:c.*316C= (KCNQ1) MANE Select ENSP00000155840.2:n.*316C=
ENST00000335475.6:c.*316C= (KCNQ1) ENSP00000334497.5:n.*316C=
ENST00000155840.9:c.*316C= (KCNQ1) ENSP00000155840.2:n.*316C=
ENST00000526095.1:n.854C= (KCNQ1)
NM_000218.2:c.*316C= , LRG_287t1:c.*316C= (KCNQ1) NP_000209.2:n.*316C=
NM_181798.1:c.*316C= , LRG_287t2:c.*316C= (KCNQ1) NP_861463.1:n.*316C=
NR_130721.1:n.778-7877G= (KCNQ1-AS1)
NM_000218.3:c.*316C= (KCNQ1) MANE Select NP_000209.2:n.*316C=
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