Canonical Allele Identifier: CA036954

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• ClinVar Variation Id: 304244
• ClinVar RCV Id: RCV000287778 ; RCV000326444 ; RCV000332475 ; RCV000383406 ; RCV000389143
• dbSNP Id: rs774059974
• ExAC: 11:2869624 G / A
• gnomAD v2: 11-2869624-G-A
• gnomAD v3: 11-2848394-G-A
• gnomAD v4: 11-2848394-G-A
• MyVariant Identifiers: chr11:g.2869624G>A (hg19) ; chr11:g.2848394G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2848394G>A , CM000673.2:g.2848394G>A	GRCh38
NC_000011.9:g.2869624G>A , CM000673.1:g.2869624G>A	GRCh37
NC_000011.8:g.2826200G>A	NCBI36
NG_008935.1:g.408404G>A , LRG_287:g.408404G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.*391G>A (KCNQ1)	ENSP00000434560.2:n.*391G>A
ENST00000155840.12:c.*391G>A (KCNQ1) MANE Select	ENSP00000155840.2:n.*391G>A
ENST00000335475.6:c.*391G>A (KCNQ1)	ENSP00000334497.5:n.*391G>A
ENST00000155840.9:c.*391G>A (KCNQ1)	ENSP00000155840.2:n.*391G>A
ENST00000526095.1:n.929G>A (KCNQ1)
NM_000218.2:c.*391G>A , LRG_287t1:c.*391G>A (KCNQ1)	NP_000209.2:n.*391G>A
NM_181798.1:c.*391G>A , LRG_287t2:c.*391G>A (KCNQ1)	NP_861463.1:n.*391G>A
NR_130721.1:n.778-7952C>T (KCNQ1-AS1)
NM_000218.3:c.*391G>A (KCNQ1) MANE Select	NP_000209.2:n.*391G>A