Canonical Allele Identifier: CA675202226

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• ClinVar Variation Id: 880340
• ClinVar RCV Id: RCV001108560 ; RCV001108561 ; RCV001108562 ; RCV001108563
• dbSNP Id: rs1296388392
• gnomAD v3: 11-2848298-G-A
• gnomAD v4: 11-2848298-G-A
• MyVariant Identifiers: chr11:g.2869528G>A (hg19) ; chr11:g.2848298G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2848298G>A , CM000673.2:g.2848298G>A	GRCh38
NC_000011.9:g.2869528G>A , CM000673.1:g.2869528G>A	GRCh37
NC_000011.8:g.2826104G>A	NCBI36
NG_008935.1:g.408308G>A , LRG_287:g.408308G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.*295G>A (KCNQ1)	ENSP00000434560.2:n.*295G>A
ENST00000155840.12:c.*295G>A (KCNQ1) MANE Select	ENSP00000155840.2:n.*295G>A
ENST00000335475.6:c.*295G>A (KCNQ1)	ENSP00000334497.5:n.*295G>A
ENST00000155840.9:c.*295G>A (KCNQ1)	ENSP00000155840.2:n.*295G>A
ENST00000526095.1:n.833G>A (KCNQ1)
NM_000218.2:c.*295G>A , LRG_287t1:c.*295G>A (KCNQ1)	NP_000209.2:n.*295G>A
NM_181798.1:c.*295G>A , LRG_287t2:c.*295G>A (KCNQ1)	NP_861463.1:n.*295G>A
NR_130721.1:n.778-7856C>T (KCNQ1-AS1)
NM_000218.3:c.*295G>A (KCNQ1) MANE Select	NP_000209.2:n.*295G>A