Canonical Allele Identifier: CA037326

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• ClinVar Variation Id: 304248
• ClinVar RCV Id: RCV000266189 ; RCV000323690 ; RCV000328448 ; RCV000377131 ; RCV000380600 ; RCV001786358
• dbSNP Id: rs141960532
• ExAC: 11:2869697 G / A
• gnomAD v2: 11-2869697-G-A
• gnomAD v3: 11-2848467-G-A
• gnomAD v4: 11-2848467-G-A
• MyVariant Identifiers: chr11:g.2869697G>A (hg19) ; chr11:g.2848467G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2848467G>A , CM000673.2:g.2848467G>A	GRCh38
NC_000011.9:g.2869697G>A , CM000673.1:g.2869697G>A	GRCh37
NC_000011.8:g.2826273G>A	NCBI36
NG_008935.1:g.408477G>A , LRG_287:g.408477G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.*464G>A (KCNQ1)	ENSP00000434560.2:n.*464G>A
ENST00000155840.12:c.*464G>A (KCNQ1) MANE Select	ENSP00000155840.2:n.*464G>A
ENST00000335475.6:c.*464G>A (KCNQ1)	ENSP00000334497.5:n.*464G>A
ENST00000155840.9:c.*464G>A (KCNQ1)	ENSP00000155840.2:n.*464G>A
ENST00000526095.1:n.1002G>A (KCNQ1)
NM_000218.2:c.*464G>A , LRG_287t1:c.*464G>A (KCNQ1)	NP_000209.2:n.*464G>A
NM_181798.1:c.*464G>A , LRG_287t2:c.*464G>A (KCNQ1)	NP_861463.1:n.*464G>A
NR_130721.1:n.778-8025C>T (KCNQ1-AS1)
NM_000218.3:c.*464G>A (KCNQ1) MANE Select	NP_000209.2:n.*464G>A