Canonical Allele Identifier: CA006566
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 405260
ClinVar RCV Id: RCV000459335
dbSNP Id: rs397508105

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847866dup , CM000673.2:g.2847866dup GRCh38
NC_000011.9:g.2869096dup , CM000673.1:g.2869096dup GRCh37
NC_000011.8:g.2825672dup NCBI36
NG_008935.1:g.407876dup , LRG_287:g.407876dup

Transcript Alleles

HGVS Amino-acid change
ENST00000155840.12:c.1894dup (KCNQ1) MANE Select ENSP00000155840.2:p.Arg632LysfsTer20
ENST00000335475.6:c.1513dup ENSP00000334497.5:p.Arg505LysfsTer20
ENST00000526095.2:c.298dup ENSP00000494939.1:p.Arg100LysfsTer20
ENST00000155840.9:c.1894dup ENSP00000155840.2:p.Arg632LysfsTer20
ENST00000335475.5:c.1513dup ENSP00000334497.5:p.Arg505LysfsTer20
ENST00000526095.1:n.401dup
NM_000218.2:c.1894dup , LRG_287t1:c.1894dup (KCNQ1) NP_000209.2:p.Arg632LysfsTer20
NM_181798.1:c.1513dup , LRG_287t2:c.1513dup (KCNQ1) NP_861463.1:p.Arg505LysfsTer20
NR_130721.1:n.778-7424dup (KCNQ1-AS1)
NM_000218.3:c.1894dup (KCNQ1) MANE Select NP_000209.2:p.Arg632LysfsTer20