Canonical Allele Identifier: CA597114560

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• dbSNP Id: rs1451245877
• gnomAD v2: 11-2870312-G-A
• gnomAD v4: 11-2849082-G-A
• MyVariant Identifiers: chr11:g.2870312G>A (hg19) ; chr11:g.2849082G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2849082G>A , CM000673.2:g.2849082G>A	GRCh38
NC_000011.9:g.2870312G>A , CM000673.1:g.2870312G>A	GRCh37
NC_000011.8:g.2826888G>A	NCBI36
NG_008935.1:g.409092G>A , LRG_287:g.409092G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000155840.12:c.*1079G>A (KCNQ1) MANE Select	ENSP00000155840.2:n.*1079G>A
ENST00000155840.9:c.*1079G>A (KCNQ1)	ENSP00000155840.2:n.*1079G>A
NM_000218.2:c.*1079G>A , LRG_287t1:c.*1079G>A (KCNQ1)	NP_000209.2:n.*1079G>A
NM_181798.1:c.*1079G>A , LRG_287t2:c.*1079G>A (KCNQ1)	NP_861463.1:n.*1079G>A
NR_130721.1:n.778-8640C>T (KCNQ1-AS1)
NM_000218.3:c.*1079G>A (KCNQ1) MANE Select	NP_000209.2:n.*1079G>A