Canonical Allele Identifier: CA379140220

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• ClinVar Variation Id: 2087838
• ClinVar RCV Id: RCV003009763
• gnomAD v4: 11-2847789-T-A
• MyVariant Identifiers: chr11:g.2869019T>A (hg19) ; chr11:g.2847789T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847789T>A , CM000673.2:g.2847789T>A	GRCh38
NC_000011.9:g.2869019T>A , CM000673.1:g.2869019T>A	GRCh37
NC_000011.8:g.2825595T>A	NCBI36
NG_008935.1:g.407799T>A , LRG_287:g.407799T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1460T>A (KCNQ1)	ENSP00000434560.2:p.Leu487Gln
ENST00000155840.12:c.1817T>A (KCNQ1) MANE Select	ENSP00000155840.2:p.Leu606Gln
ENST00000335475.6:c.1436T>A (KCNQ1)	ENSP00000334497.5:p.Leu479Gln
ENST00000526095.2:c.221T>A (KCNQ1)	ENSP00000494939.1:p.Leu74Gln
ENST00000155840.9:c.1817T>A (KCNQ1)	ENSP00000155840.2:p.Leu606Gln
ENST00000335475.5:c.1436T>A (KCNQ1)	ENSP00000334497.5:p.Leu479Gln
ENST00000526095.1:n.324T>A (KCNQ1)
NM_000218.2:c.1817T>A , LRG_287t1:c.1817T>A (KCNQ1)	NP_000209.2:p.Leu606Gln
NM_181798.1:c.1436T>A , LRG_287t2:c.1436T>A (KCNQ1)	NP_861463.1:p.Leu479Gln
NR_130721.1:n.778-7347A>T (KCNQ1-AS1)
NM_000218.3:c.1817T>A (KCNQ1) MANE Select	NP_000209.2:p.Leu606Gln