Canonical Allele Identifier: CA10630692

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• ClinVar Variation Id: 304232
• ClinVar RCV Id: RCV000290090 ; RCV000340465 ; RCV000326834 ; RCV000376447 ; RCV000384513
• dbSNP Id: rs886048166
• gnomAD v4: 11-2848029-C-A
• MyVariant Identifiers: chr11:g.2869259C>A (hg19) ; chr11:g.2848029C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2848029C>A , CM000673.2:g.2848029C>A	GRCh38
NC_000011.9:g.2869259C>A , CM000673.1:g.2869259C>A	GRCh37
NC_000011.8:g.2825835C>A	NCBI36
NG_008935.1:g.408039C>A , LRG_287:g.408039C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.*26C>A (KCNQ1)	ENSP00000434560.2:n.*26C>A
ENST00000155840.12:c.*26C>A (KCNQ1) MANE Select	ENSP00000155840.2:n.*26C>A
ENST00000335475.6:c.*26C>A (KCNQ1)	ENSP00000334497.5:n.*26C>A
ENST00000526095.2:c.*26C>A (KCNQ1)	ENSP00000494939.1:n.*26C>A
ENST00000155840.9:c.*26C>A (KCNQ1)	ENSP00000155840.2:n.*26C>A
ENST00000335475.5:c.*26C>A (KCNQ1)	ENSP00000334497.5:n.*26C>A
ENST00000526095.1:n.564C>A (KCNQ1)
NM_000218.2:c.*26C>A , LRG_287t1:c.*26C>A (KCNQ1)	NP_000209.2:n.*26C>A
NM_181798.1:c.*26C>A , LRG_287t2:c.*26C>A (KCNQ1)	NP_861463.1:n.*26C>A
NR_130721.1:n.778-7587G>T (KCNQ1-AS1)
NM_000218.3:c.*26C>A (KCNQ1) MANE Select	NP_000209.2:n.*26C>A