Canonical Allele Identifier: CA2612012049
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

gnomAD v4: 11-2848562-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848562A>G , CM000673.2:g.2848562A>G GRCh38
NC_000011.9:g.2869792A>G , CM000673.1:g.2869792A>G GRCh37
NC_000011.8:g.2826368A>G NCBI36
NG_008935.1:g.408572A>G , LRG_287:g.408572A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.*559A>G (KCNQ1) ENSP00000434560.2:n.*559A>G
ENST00000155840.12:c.*559A>G (KCNQ1) MANE Select ENSP00000155840.2:n.*559A>G
ENST00000335475.6:c.*559A>G (KCNQ1) ENSP00000334497.5:n.*559A>G
ENST00000155840.9:c.*559A>G (KCNQ1) ENSP00000155840.2:n.*559A>G
NM_000218.2:c.*559A>G , LRG_287t1:c.*559A>G (KCNQ1) NP_000209.2:n.*559A>G
NM_181798.1:c.*559A>G , LRG_287t2:c.*559A>G (KCNQ1) NP_861463.1:n.*559A>G
NR_130721.1:n.778-8120T>C (KCNQ1-AS1)
NM_000218.3:c.*559A>G (KCNQ1) MANE Select NP_000209.2:n.*559A>G
Search 100 bp 5'
Search 100 bp 3'