Canonical Allele Identifier: CA472466097

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• dbSNP Id: rs1848361780
• gnomAD v4: 11-2847790-G-A
• MyVariant Identifiers: chr11:g.2869020G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847790G>A , CM000673.2:g.2847790G>A	GRCh38
NC_000011.9:g.2869020G>A , CM000673.1:g.2869020G>A	GRCh37
NC_000011.8:g.2825596G>A	NCBI36
NG_008935.1:g.407800G>A , LRG_287:g.407800G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1461G>A (KCNQ1)	ENSP00000434560.2:p.Leu487=
ENST00000155840.12:c.1818G>A (KCNQ1) MANE Select	ENSP00000155840.2:p.Leu606=
ENST00000335475.6:c.1437G>A (KCNQ1)	ENSP00000334497.5:p.Leu479=
ENST00000526095.2:c.222G>A (KCNQ1)	ENSP00000494939.1:p.Leu74=
ENST00000155840.9:c.1818G>A (KCNQ1)	ENSP00000155840.2:p.Leu606=
ENST00000335475.5:c.1437G>A (KCNQ1)	ENSP00000334497.5:p.Leu479=
ENST00000526095.1:n.325G>A (KCNQ1)
NM_000218.2:c.1818G>A , LRG_287t1:c.1818G>A (KCNQ1)	NP_000209.2:p.Leu606=
NM_181798.1:c.1437G>A , LRG_287t2:c.1437G>A (KCNQ1)	NP_861463.1:p.Leu479=
NR_130721.1:n.778-7348C>T (KCNQ1-AS1)
NM_000218.3:c.1818G>A (KCNQ1) MANE Select	NP_000209.2:p.Leu606=