Canonical Allele Identifier: CA1948350274
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1848401875

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848991_2848995dup , CM000673.2:g.2848991_2848995dup GRCh38
NC_000011.9:g.2870221_2870225dup , CM000673.1:g.2870221_2870225dup GRCh37
NC_000011.8:g.2826797_2826801dup NCBI36
NG_008935.1:g.409001_409005dup , LRG_287:g.409001_409005dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000155840.12:c.*988_*992dup (KCNQ1) MANE Select ENSP00000155840.2:n.*988_*992dup
ENST00000155840.9:c.*988_*992dup (KCNQ1) ENSP00000155840.2:n.*988_*992dup
NM_000218.2:c.*988_*992dup , LRG_287t1:c.*988_*992dup (KCNQ1) NP_000209.2:n.*988_*992dup
NM_181798.1:c.*988_*992dup , LRG_287t2:c.*988_*992dup (KCNQ1) NP_861463.1:n.*988_*992dup
NR_130721.1:n.778-8553_778-8549dup (KCNQ1-AS1)
NM_000218.3:c.*988_*992dup (KCNQ1) MANE Select NP_000209.2:n.*988_*992dup