Canonical Allele Identifier: CA597114551
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1249622963
gnomAD v2: 11-2870260-C-A
gnomAD v3: 11-2849030-C-A
gnomAD v4: 11-2849030-C-A
MyVariant Identifiers: chr11:g.2870260C>A (hg19) chr11:g.2849030C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2849030C>A , CM000673.2:g.2849030C>A GRCh38
NC_000011.9:g.2870260C>A , CM000673.1:g.2870260C>A GRCh37
NC_000011.8:g.2826836C>A NCBI36
NG_008935.1:g.409040C>A , LRG_287:g.409040C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000155840.12:c.*1027C>A (KCNQ1) MANE Select ENSP00000155840.2:n.*1027C>A
ENST00000155840.9:c.*1027C>A (KCNQ1) ENSP00000155840.2:n.*1027C>A
NM_000218.2:c.*1027C>A , LRG_287t1:c.*1027C>A (KCNQ1) NP_000209.2:n.*1027C>A
NM_181798.1:c.*1027C>A , LRG_287t2:c.*1027C>A (KCNQ1) NP_861463.1:n.*1027C>A
NR_130721.1:n.778-8588G>T (KCNQ1-AS1)
NM_000218.3:c.*1027C>A (KCNQ1) MANE Select NP_000209.2:n.*1027C>A
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Search 100 bp 3'