Canonical Allele Identifier: CA006577
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53026
ClinVar RCV Id: RCV000046039 RCV001841641 RCV001787845
dbSNP Id: rs397508104
gnomAD v2: 11-2869088-GC-G
gnomAD v3: 11-2847858-GC-G
gnomAD v4: 11-2847858-GC-G
MyVariant Identifiers: chr11:g.2869095del (hg19) chr11:g.2869089del (hg19) chr11:g.2847865del (hg38) chr11:g.2847859del (hg38)
PubMed: PMID:16414944
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847865del , CM000673.2:g.2847865del GRCh38
NC_000011.9:g.2869095del , CM000673.1:g.2869095del GRCh37
NC_000011.8:g.2825671del NCBI36
NG_008935.1:g.407875del , LRG_287:g.407875del

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1536del (KCNQ1) ENSP00000434560.2:p.Arg513GlufsTer?
ENST00000155840.12:c.1893del (KCNQ1) MANE Select ENSP00000155840.2:p.Arg632GlufsTer?
ENST00000335475.6:c.1512del (KCNQ1) ENSP00000334497.5:p.Arg505GlufsTer?
ENST00000526095.2:c.297del (KCNQ1) ENSP00000494939.1:p.Arg100GlufsTer?
ENST00000155840.9:c.1893del (KCNQ1) ENSP00000155840.2:p.Arg632GlufsTer?
ENST00000335475.5:c.1512del (KCNQ1) ENSP00000334497.5:p.Arg505GlufsTer?
ENST00000526095.1:n.400del (KCNQ1)
NM_000218.2:c.1893del , LRG_287t1:c.1893del (KCNQ1) NP_000209.2:p.Arg632GlufsTer?
NM_181798.1:c.1512del , LRG_287t2:c.1512del (KCNQ1) NP_861463.1:p.Arg505GlufsTer?
NR_130721.1:n.778-7417del (KCNQ1-AS1)
NM_000218.3:c.1893del (KCNQ1) MANE Select NP_000209.2:p.Arg632GlufsTer?
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