Canonical Allele Identifier: CA1948350170
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1848397136

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848798T>A , CM000673.2:g.2848798T>A GRCh38
NC_000011.9:g.2870028T>A , CM000673.1:g.2870028T>A GRCh37
NC_000011.8:g.2826604T>A NCBI36
NG_008935.1:g.408808T>A , LRG_287:g.408808T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.*795T>A (KCNQ1) ENSP00000434560.2:n.*795T>A
ENST00000155840.12:c.*795T>A (KCNQ1) MANE Select ENSP00000155840.2:n.*795T>A
ENST00000335475.6:c.*795T>A (KCNQ1) ENSP00000334497.5:n.*795T>A
ENST00000155840.9:c.*795T>A (KCNQ1) ENSP00000155840.2:n.*795T>A
NM_000218.2:c.*795T>A , LRG_287t1:c.*795T>A (KCNQ1) NP_000209.2:n.*795T>A
NM_181798.1:c.*795T>A , LRG_287t2:c.*795T>A (KCNQ1) NP_861463.1:n.*795T>A
NR_130721.1:n.778-8356A>T (KCNQ1-AS1)
NM_000218.3:c.*795T>A (KCNQ1) MANE Select NP_000209.2:n.*795T>A