Canonical Allele Identifier: CA216346608

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• dbSNP Id: rs1042629125
• gnomAD v2: 11-2870255-T-C
• gnomAD v4: 11-2849025-T-C
• MyVariant Identifiers: chr11:g.2870255T>C (hg19) ; chr11:g.2849025T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2849025T>C , CM000673.2:g.2849025T>C	GRCh38
NC_000011.9:g.2870255T>C , CM000673.1:g.2870255T>C	GRCh37
NC_000011.8:g.2826831T>C	NCBI36
NG_008935.1:g.409035T>C , LRG_287:g.409035T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000155840.12:c.*1022T>C (KCNQ1) MANE Select	ENSP00000155840.2:n.*1022T>C
ENST00000155840.9:c.*1022T>C (KCNQ1)	ENSP00000155840.2:n.*1022T>C
NM_000218.2:c.*1022T>C , LRG_287t1:c.*1022T>C (KCNQ1)	NP_000209.2:n.*1022T>C
NM_181798.1:c.*1022T>C , LRG_287t2:c.*1022T>C (KCNQ1)	NP_861463.1:n.*1022T>C
NR_130721.1:n.778-8583A>G (KCNQ1-AS1)
NM_000218.3:c.*1022T>C (KCNQ1) MANE Select	NP_000209.2:n.*1022T>C