Canonical Allele Identifier: CA2612012213
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

gnomAD v4: 11-2849105-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2849105A>G , CM000673.2:g.2849105A>G GRCh38
NC_000011.9:g.2870335A>G , CM000673.1:g.2870335A>G GRCh37
NC_000011.8:g.2826911A>G NCBI36
NG_008935.1:g.409115A>G , LRG_287:g.409115A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000155840.12:c.*1102A>G (KCNQ1) MANE Select ENSP00000155840.2:n.*1102A>G
ENST00000155840.9:c.*1102A>G (KCNQ1) ENSP00000155840.2:n.*1102A>G
NM_000218.2:c.*1102A>G , LRG_287t1:c.*1102A>G (KCNQ1) NP_000209.2:n.*1102A>G
NM_181798.1:c.*1102A>G , LRG_287t2:c.*1102A>G (KCNQ1) NP_861463.1:n.*1102A>G
NR_130721.1:n.778-8663T>C (KCNQ1-AS1)
NM_000218.3:c.*1102A>G (KCNQ1) MANE Select NP_000209.2:n.*1102A>G