Canonical Allele Identifier: CA006458
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67058
ClinVar RCV Id: RCV000057642
dbSNP Id: rs199472818
MyVariant Identifiers: chr11:g.2869007T>C (hg19) chr11:g.2847777T>C (hg38)
PubMed: PMID:20541041 PMID:22581653
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847777T>C , CM000673.2:g.2847777T>C GRCh38
NC_000011.9:g.2869007T>C , CM000673.1:g.2869007T>C GRCh37
NC_000011.8:g.2825583T>C NCBI36
NG_008935.1:g.407787T>C , LRG_287:g.407787T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.1448T>C (KCNQ1) ENSP00000434560.2:p.Leu483Pro
ENST00000155840.12:c.1805T>C (KCNQ1) MANE Select ENSP00000155840.2:p.Leu602Pro
ENST00000335475.6:c.1424T>C (KCNQ1) ENSP00000334497.5:p.Leu475Pro
ENST00000526095.2:c.209T>C (KCNQ1) ENSP00000494939.1:p.Leu70Pro
ENST00000155840.9:c.1805T>C (KCNQ1) ENSP00000155840.2:p.Leu602Pro
ENST00000335475.5:c.1424T>C (KCNQ1) ENSP00000334497.5:p.Leu475Pro
ENST00000526095.1:n.312T>C (KCNQ1)
NM_000218.2:c.1805T>C , LRG_287t1:c.1805T>C (KCNQ1) NP_000209.2:p.Leu602Pro
NM_181798.1:c.1424T>C , LRG_287t2:c.1424T>C (KCNQ1) NP_861463.1:p.Leu475Pro
NR_130721.1:n.778-7335A>G (KCNQ1-AS1)
NM_000218.3:c.1805T>C (KCNQ1) MANE Select NP_000209.2:p.Leu602Pro
Search 100 bp 5'
Search 100 bp 3'