Canonical Allele Identifier: CA305988
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53029
ClinVar RCV Id: RCV000182289 RCV001852973
dbSNP Id: rs397508106
MyVariant Identifiers: chr11:g.2869227dupG (hg19) chr11:g.2847997dupG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847997dup , CM000673.2:g.2847997dup GRCh38
NC_000011.9:g.2869227dup , CM000673.1:g.2869227dup GRCh37
NC_000011.8:g.2825803dup NCBI36
NG_008935.1:g.408007dup , LRG_287:g.408007dup

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.1668dup (KCNQ1) ENSP00000434560.2:p.Ser557ValfsTer?
ENST00000155840.12:c.2025dup (KCNQ1) MANE Select ENSP00000155840.2:p.Ser676ValfsTer?
ENST00000335475.6:c.1644dup (KCNQ1) ENSP00000334497.5:p.Ser549ValfsTer?
ENST00000526095.2:c.429dup (KCNQ1) ENSP00000494939.1:p.Ser144ValfsTer?
ENST00000155840.9:c.2025dup (KCNQ1) ENSP00000155840.2:p.Ser676ValfsTer?
ENST00000335475.5:c.1644dup (KCNQ1) ENSP00000334497.5:p.Ser549ValfsTer?
ENST00000526095.1:n.532dup (KCNQ1)
NM_000218.2:c.2025dup , LRG_287t1:c.2025dup (KCNQ1) NP_000209.2:p.Ser676ValfsTer?
NM_181798.1:c.1644dup , LRG_287t2:c.1644dup (KCNQ1) NP_861463.1:p.Ser549ValfsTer?
NR_130721.1:n.778-7552dup (KCNQ1-AS1)
NM_000218.3:c.2025dup (KCNQ1) MANE Select NP_000209.2:p.Ser676ValfsTer?
Search 100 bp 5'
Search 100 bp 3'