Canonical Allele Identifier: CA379140204

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• gnomAD v4: 11-2847782-C-A
• MyVariant Identifiers: chr11:g.2869012C>A (hg19) ; chr11:g.2847782C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847782C>A , CM000673.2:g.2847782C>A	GRCh38
NC_000011.9:g.2869012C>A , CM000673.1:g.2869012C>A	GRCh37
NC_000011.8:g.2825588C>A	NCBI36
NG_008935.1:g.407792C>A , LRG_287:g.407792C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1453C>A (KCNQ1)	ENSP00000434560.2:p.Gln485Lys
ENST00000155840.12:c.1810C>A (KCNQ1) MANE Select	ENSP00000155840.2:p.Gln604Lys
ENST00000335475.6:c.1429C>A (KCNQ1)	ENSP00000334497.5:p.Gln477Lys
ENST00000526095.2:c.214C>A (KCNQ1)	ENSP00000494939.1:p.Gln72Lys
ENST00000155840.9:c.1810C>A (KCNQ1)	ENSP00000155840.2:p.Gln604Lys
ENST00000335475.5:c.1429C>A (KCNQ1)	ENSP00000334497.5:p.Gln477Lys
ENST00000526095.1:n.317C>A (KCNQ1)
NM_000218.2:c.1810C>A , LRG_287t1:c.1810C>A (KCNQ1)	NP_000209.2:p.Gln604Lys
NM_181798.1:c.1429C>A , LRG_287t2:c.1429C>A (KCNQ1)	NP_861463.1:p.Gln477Lys
NR_130721.1:n.778-7340G>T (KCNQ1-AS1)
NM_000218.3:c.1810C>A (KCNQ1) MANE Select	NP_000209.2:p.Gln604Lys