Canonical Allele Identifier: CA472467070

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• ClinVar Variation Id: 1094112
• ClinVar RCV Id: RCV001414535
• dbSNP Id: rs775497150
• MyVariant Identifiers: chr11:g.2869200C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847970C>G , CM000673.2:g.2847970C>G	GRCh38
NC_000011.9:g.2869200C>G , CM000673.1:g.2869200C>G	GRCh37
NC_000011.8:g.2825776C>G	NCBI36
NG_008935.1:g.407980C>G , LRG_287:g.407980C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1641C>G (KCNQ1)	ENSP00000434560.2:p.Thr547=
ENST00000155840.12:c.1998C>G (KCNQ1) MANE Select	ENSP00000155840.2:p.Thr666=
ENST00000335475.6:c.1617C>G (KCNQ1)	ENSP00000334497.5:p.Thr539=
ENST00000526095.2:c.402C>G (KCNQ1)	ENSP00000494939.1:p.Thr134=
ENST00000155840.9:c.1998C>G (KCNQ1)	ENSP00000155840.2:p.Thr666=
ENST00000335475.5:c.1617C>G (KCNQ1)	ENSP00000334497.5:p.Thr539=
ENST00000526095.1:n.505C>G (KCNQ1)
NM_000218.2:c.1998C>G , LRG_287t1:c.1998C>G (KCNQ1)	NP_000209.2:p.Thr666=
NM_181798.1:c.1617C>G , LRG_287t2:c.1617C>G (KCNQ1)	NP_861463.1:p.Thr539=
NR_130721.1:n.778-7528G>C (KCNQ1-AS1)
NM_000218.3:c.1998C>G (KCNQ1) MANE Select	NP_000209.2:p.Thr666=