Canonical Allele Identifier: CA216345321

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• ClinVar Variation Id: 746861
• ClinVar RCV Id: RCV002065991 ; RCV002409185 ; RCV003591806
• dbSNP Id: rs184844767
• gnomAD v2: 11-2869140-C-A
• gnomAD v3: 11-2847910-C-A
• gnomAD v4: 11-2847910-C-A
• MyVariant Identifiers: chr11:g.2869140C>A (hg19) ; chr11:g.2847910C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847910C>A , CM000673.2:g.2847910C>A	GRCh38
NC_000011.9:g.2869140C>A , CM000673.1:g.2869140C>A	GRCh37
NC_000011.8:g.2825716C>A	NCBI36
NG_008935.1:g.407920C>A , LRG_287:g.407920C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1581C>A (KCNQ1)	ENSP00000434560.2:p.Gly527=
ENST00000155840.12:c.1938C>A (KCNQ1) MANE Select	ENSP00000155840.2:p.Gly646=
ENST00000335475.6:c.1557C>A (KCNQ1)	ENSP00000334497.5:p.Gly519=
ENST00000526095.2:c.342C>A (KCNQ1)	ENSP00000494939.1:p.Gly114=
ENST00000155840.9:c.1938C>A (KCNQ1)	ENSP00000155840.2:p.Gly646=
ENST00000335475.5:c.1557C>A (KCNQ1)	ENSP00000334497.5:p.Gly519=
ENST00000526095.1:n.445C>A (KCNQ1)
NM_000218.2:c.1938C>A , LRG_287t1:c.1938C>A (KCNQ1)	NP_000209.2:p.Gly646=
NM_181798.1:c.1557C>A , LRG_287t2:c.1557C>A (KCNQ1)	NP_861463.1:p.Gly519=
NR_130721.1:n.778-7468G>T (KCNQ1-AS1)
NM_000218.3:c.1938C>A (KCNQ1) MANE Select	NP_000209.2:p.Gly646=