Canonical Allele Identifier: CA10630696

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• ClinVar Variation Id: 304240
• ClinVar RCV Id: RCV000292799 ; RCV000318949 ; RCV000331378 ; RCV000375595 ; RCV000388198
• dbSNP Id: rs886048169
• gnomAD v4: 11-2848295-C-A
• MyVariant Identifiers: chr11:g.2869525C>A (hg19) ; chr11:g.2848295C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2848295C>A , CM000673.2:g.2848295C>A	GRCh38
NC_000011.9:g.2869525C>A , CM000673.1:g.2869525C>A	GRCh37
NC_000011.8:g.2826101C>A	NCBI36
NG_008935.1:g.408305C>A , LRG_287:g.408305C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.*292C>A (KCNQ1)	ENSP00000434560.2:n.*292C>A
ENST00000155840.12:c.*292C>A (KCNQ1) MANE Select	ENSP00000155840.2:n.*292C>A
ENST00000335475.6:c.*292C>A (KCNQ1)	ENSP00000334497.5:n.*292C>A
ENST00000155840.9:c.*292C>A (KCNQ1)	ENSP00000155840.2:n.*292C>A
ENST00000526095.1:n.830C>A (KCNQ1)
NM_000218.2:c.*292C>A , LRG_287t1:c.*292C>A (KCNQ1)	NP_000209.2:n.*292C>A
NM_181798.1:c.*292C>A , LRG_287t2:c.*292C>A (KCNQ1)	NP_861463.1:n.*292C>A
NR_130721.1:n.778-7853G>T (KCNQ1-AS1)
NM_000218.3:c.*292C>A (KCNQ1) MANE Select	NP_000209.2:n.*292C>A