Canonical Allele Identifier: CA472466729
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.2869119C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847889C>G , CM000673.2:g.2847889C>G GRCh38
NC_000011.9:g.2869119C>G , CM000673.1:g.2869119C>G GRCh37
NC_000011.8:g.2825695C>G NCBI36
NG_008935.1:g.407899C>G , LRG_287:g.407899C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1560C>G (KCNQ1) ENSP00000434560.2:p.Thr520=
ENST00000155840.12:c.1917C>G (KCNQ1) MANE Select ENSP00000155840.2:p.Thr639=
ENST00000335475.6:c.1536C>G (KCNQ1) ENSP00000334497.5:p.Thr512=
ENST00000526095.2:c.321C>G (KCNQ1) ENSP00000494939.1:p.Thr107=
ENST00000155840.9:c.1917C>G (KCNQ1) ENSP00000155840.2:p.Thr639=
ENST00000335475.5:c.1536C>G (KCNQ1) ENSP00000334497.5:p.Thr512=
ENST00000526095.1:n.424C>G (KCNQ1)
NM_000218.2:c.1917C>G , LRG_287t1:c.1917C>G (KCNQ1) NP_000209.2:p.Thr639=
NM_181798.1:c.1536C>G , LRG_287t2:c.1536C>G (KCNQ1) NP_861463.1:p.Thr512=
NR_130721.1:n.778-7447G>C (KCNQ1-AS1)
NM_000218.3:c.1917C>G (KCNQ1) MANE Select NP_000209.2:p.Thr639=