Canonical Allele Identifier: CA2612012200
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

gnomAD v4: 11-2849029-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2849029G>A , CM000673.2:g.2849029G>A GRCh38
NC_000011.9:g.2870259G>A , CM000673.1:g.2870259G>A GRCh37
NC_000011.8:g.2826835G>A NCBI36
NG_008935.1:g.409039G>A , LRG_287:g.409039G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000155840.12:c.*1026G>A (KCNQ1) MANE Select ENSP00000155840.2:n.*1026G>A
ENST00000155840.9:c.*1026G>A (KCNQ1) ENSP00000155840.2:n.*1026G>A
NM_000218.2:c.*1026G>A , LRG_287t1:c.*1026G>A (KCNQ1) NP_000209.2:n.*1026G>A
NM_181798.1:c.*1026G>A , LRG_287t2:c.*1026G>A (KCNQ1) NP_861463.1:n.*1026G>A
NR_130721.1:n.778-8587C>T (KCNQ1-AS1)
NM_000218.3:c.*1026G>A (KCNQ1) MANE Select NP_000209.2:n.*1026G>A