Canonical Allele Identifier: CA379140577

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• gnomAD v4: 11-2847963-A-G
• MyVariant Identifiers: chr11:g.2869193A>G (hg19) ; chr11:g.2847963A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847963A>G , CM000673.2:g.2847963A>G	GRCh38
NC_000011.9:g.2869193A>G , CM000673.1:g.2869193A>G	GRCh37
NC_000011.8:g.2825769A>G	NCBI36
NG_008935.1:g.407973A>G , LRG_287:g.407973A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1634A>G (KCNQ1)	ENSP00000434560.2:p.Gln545Arg
ENST00000155840.12:c.1991A>G (KCNQ1) MANE Select	ENSP00000155840.2:p.Gln664Arg
ENST00000335475.6:c.1610A>G (KCNQ1)	ENSP00000334497.5:p.Gln537Arg
ENST00000526095.2:c.395A>G (KCNQ1)	ENSP00000494939.1:p.Gln132Arg
ENST00000155840.9:c.1991A>G (KCNQ1)	ENSP00000155840.2:p.Gln664Arg
ENST00000335475.5:c.1610A>G (KCNQ1)	ENSP00000334497.5:p.Gln537Arg
ENST00000526095.1:n.498A>G (KCNQ1)
NM_000218.2:c.1991A>G , LRG_287t1:c.1991A>G (KCNQ1)	NP_000209.2:p.Gln664Arg
NM_181798.1:c.1610A>G , LRG_287t2:c.1610A>G (KCNQ1)	NP_861463.1:p.Gln537Arg
NR_130721.1:n.778-7521T>C (KCNQ1-AS1)
NM_000218.3:c.1991A>G (KCNQ1) MANE Select	NP_000209.2:p.Gln664Arg