Canonical Allele Identifier: CA597114549
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1356573092
gnomAD v2: 11-2870250-G-A
gnomAD v3: 11-2849020-G-A
gnomAD v4: 11-2849020-G-A
MyVariant Identifiers: chr11:g.2870250G>A (hg19) chr11:g.2849020G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2849020G>A , CM000673.2:g.2849020G>A GRCh38
NC_000011.9:g.2870250G>A , CM000673.1:g.2870250G>A GRCh37
NC_000011.8:g.2826826G>A NCBI36
NG_008935.1:g.409030G>A , LRG_287:g.409030G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000155840.12:c.*1017G>A (KCNQ1) MANE Select ENSP00000155840.2:n.*1017G>A
ENST00000155840.9:c.*1017G>A (KCNQ1) ENSP00000155840.2:n.*1017G>A
NM_000218.2:c.*1017G>A , LRG_287t1:c.*1017G>A (KCNQ1) NP_000209.2:n.*1017G>A
NM_181798.1:c.*1017G>A , LRG_287t2:c.*1017G>A (KCNQ1) NP_861463.1:n.*1017G>A
NR_130721.1:n.778-8578C>T (KCNQ1-AS1)
NM_000218.3:c.*1017G>A (KCNQ1) MANE Select NP_000209.2:n.*1017G>A
Search 100 bp 5'
Search 100 bp 3'