Canonical Allele Identifier: CA472467046
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

gnomAD v4: 11-2847964-G-A
MyVariant Identifiers: chr11:g.2869194G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847964G>A , CM000673.2:g.2847964G>A GRCh38
NC_000011.9:g.2869194G>A , CM000673.1:g.2869194G>A GRCh37
NC_000011.8:g.2825770G>A NCBI36
NG_008935.1:g.407974G>A , LRG_287:g.407974G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1635G>A (KCNQ1) ENSP00000434560.2:p.Gln545=
ENST00000155840.12:c.1992G>A (KCNQ1) MANE Select ENSP00000155840.2:p.Gln664=
ENST00000335475.6:c.1611G>A (KCNQ1) ENSP00000334497.5:p.Gln537=
ENST00000526095.2:c.396G>A (KCNQ1) ENSP00000494939.1:p.Gln132=
ENST00000155840.9:c.1992G>A (KCNQ1) ENSP00000155840.2:p.Gln664=
ENST00000335475.5:c.1611G>A (KCNQ1) ENSP00000334497.5:p.Gln537=
ENST00000526095.1:n.499G>A (KCNQ1)
NM_000218.2:c.1992G>A , LRG_287t1:c.1992G>A (KCNQ1) NP_000209.2:p.Gln664=
NM_181798.1:c.1611G>A , LRG_287t2:c.1611G>A (KCNQ1) NP_861463.1:p.Gln537=
NR_130721.1:n.778-7522C>T (KCNQ1-AS1)
NM_000218.3:c.1992G>A (KCNQ1) MANE Select NP_000209.2:p.Gln664=
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