Canonical Allele Identifier: CA2612011999
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

gnomAD v4: 11-2848475-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848475C>A , CM000673.2:g.2848475C>A GRCh38
NC_000011.9:g.2869705C>A , CM000673.1:g.2869705C>A GRCh37
NC_000011.8:g.2826281C>A NCBI36
NG_008935.1:g.408485C>A , LRG_287:g.408485C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.*472C>A (KCNQ1) ENSP00000434560.2:n.*472C>A
ENST00000155840.12:c.*472C>A (KCNQ1) MANE Select ENSP00000155840.2:n.*472C>A
ENST00000335475.6:c.*472C>A (KCNQ1) ENSP00000334497.5:n.*472C>A
ENST00000155840.9:c.*472C>A (KCNQ1) ENSP00000155840.2:n.*472C>A
ENST00000526095.1:n.1010C>A (KCNQ1)
NM_000218.2:c.*472C>A , LRG_287t1:c.*472C>A (KCNQ1) NP_000209.2:n.*472C>A
NM_181798.1:c.*472C>A , LRG_287t2:c.*472C>A (KCNQ1) NP_861463.1:n.*472C>A
NR_130721.1:n.778-8033G>T (KCNQ1-AS1)
NM_000218.3:c.*472C>A (KCNQ1) MANE Select NP_000209.2:n.*472C>A
Search 100 bp 5'
Search 100 bp 3'