Canonical Allele Identifier: CA037899

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• ClinVar Variation Id: 304233
• ClinVar RCV Id: RCV000286698 ; RCV000296844 ; RCV000338318 ; RCV000341725 ; RCV000403539
• dbSNP Id: rs754931159
• ExAC: 11:2869280 A / C
• gnomAD v2: 11-2869280-A-C
• gnomAD v3: 11-2848050-A-C
• gnomAD v4: 11-2848050-A-C
• MyVariant Identifiers: chr11:g.2869280A>C (hg19) ; chr11:g.2848050A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2848050A>C , CM000673.2:g.2848050A>C	GRCh38
NC_000011.9:g.2869280A>C , CM000673.1:g.2869280A>C	GRCh37
NC_000011.8:g.2825856A>C	NCBI36
NG_008935.1:g.408060A>C , LRG_287:g.408060A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.*47A>C (KCNQ1)	ENSP00000434560.2:n.*47A>C
ENST00000155840.12:c.*47A>C (KCNQ1) MANE Select	ENSP00000155840.2:n.*47A>C
ENST00000335475.6:c.*47A>C (KCNQ1)	ENSP00000334497.5:n.*47A>C
ENST00000526095.2:c.*47A>C (KCNQ1)	ENSP00000494939.1:n.*47A>C
ENST00000155840.9:c.*47A>C (KCNQ1)	ENSP00000155840.2:n.*47A>C
ENST00000335475.5:c.*47A>C (KCNQ1)	ENSP00000334497.5:n.*47A>C
ENST00000526095.1:n.585A>C (KCNQ1)
NM_000218.2:c.*47A>C , LRG_287t1:c.*47A>C (KCNQ1)	NP_000209.2:n.*47A>C
NM_181798.1:c.*47A>C , LRG_287t2:c.*47A>C (KCNQ1)	NP_861463.1:n.*47A>C
NR_130721.1:n.778-7608T>G (KCNQ1-AS1)
NM_000218.3:c.*47A>C (KCNQ1) MANE Select	NP_000209.2:n.*47A>C