Canonical Allele Identifier: CA379140442

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• gnomAD v4: 11-2847897-G-A
• MyVariant Identifiers: chr11:g.2869127G>A (hg19) ; chr11:g.2847897G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847897G>A , CM000673.2:g.2847897G>A	GRCh38
NC_000011.9:g.2869127G>A , CM000673.1:g.2869127G>A	GRCh37
NC_000011.8:g.2825703G>A	NCBI36
NG_008935.1:g.407907G>A , LRG_287:g.407907G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1568G>A (KCNQ1)	ENSP00000434560.2:p.Cys523Tyr
ENST00000155840.12:c.1925G>A (KCNQ1) MANE Select	ENSP00000155840.2:p.Cys642Tyr
ENST00000335475.6:c.1544G>A (KCNQ1)	ENSP00000334497.5:p.Cys515Tyr
ENST00000526095.2:c.329G>A (KCNQ1)	ENSP00000494939.1:p.Cys110Tyr
ENST00000155840.9:c.1925G>A (KCNQ1)	ENSP00000155840.2:p.Cys642Tyr
ENST00000335475.5:c.1544G>A (KCNQ1)	ENSP00000334497.5:p.Cys515Tyr
ENST00000526095.1:n.432G>A (KCNQ1)
NM_000218.2:c.1925G>A , LRG_287t1:c.1925G>A (KCNQ1)	NP_000209.2:p.Cys642Tyr
NM_181798.1:c.1544G>A , LRG_287t2:c.1544G>A (KCNQ1)	NP_861463.1:p.Cys515Tyr
NR_130721.1:n.778-7455C>T (KCNQ1-AS1)
NM_000218.3:c.1925G>A (KCNQ1) MANE Select	NP_000209.2:p.Cys642Tyr