Canonical Allele Identifier: CA10630708

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• ClinVar Variation Id: 304251
• ClinVar RCV Id: RCV000267689 ; RCV000273039 ; RCV000303024 ; RCV000360151 ; RCV000365278
• dbSNP Id: rs886048171
• MyVariant Identifiers: chr11:g.2869772G>C (hg19) ; chr11:g.2848542G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2848542G>C , CM000673.2:g.2848542G>C	GRCh38
NC_000011.9:g.2869772G>C , CM000673.1:g.2869772G>C	GRCh37
NC_000011.8:g.2826348G>C	NCBI36
NG_008935.1:g.408552G>C , LRG_287:g.408552G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.*539G>C (KCNQ1)	ENSP00000434560.2:n.*539G>C
ENST00000155840.12:c.*539G>C (KCNQ1) MANE Select	ENSP00000155840.2:n.*539G>C
ENST00000335475.6:c.*539G>C (KCNQ1)	ENSP00000334497.5:n.*539G>C
ENST00000155840.9:c.*539G>C (KCNQ1)	ENSP00000155840.2:n.*539G>C
NM_000218.2:c.*539G>C , LRG_287t1:c.*539G>C (KCNQ1)	NP_000209.2:n.*539G>C
NM_181798.1:c.*539G>C , LRG_287t2:c.*539G>C (KCNQ1)	NP_861463.1:n.*539G>C
NR_130721.1:n.778-8100C>G (KCNQ1-AS1)
NM_000218.3:c.*539G>C (KCNQ1) MANE Select	NP_000209.2:n.*539G>C