Canonical Allele Identifier: CA030773

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 526906
• ClinVar RCV Id: RCV000631552 ; RCV001841812 ; RCV003441979 ; RCV003319386
• dbSNP Id: rs753962384
• ExAC: 11:2790091 G / A
• gnomAD v2: 11-2790091-G-A
• gnomAD v3: 11-2768861-G-A
• gnomAD v4: 11-2768861-G-A
• MyVariant Identifiers: chr11:g.2790091G>A (hg19) ; chr11:g.2768861G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768861G>A , CM000673.2:g.2768861G>A	GRCh38
NC_000011.9:g.2790091G>A , CM000673.1:g.2790091G>A	GRCh37
NC_000011.8:g.2746667G>A	NCBI36
NG_008935.1:g.328871G>A , LRG_287:g.328871G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1175G>A	ENSP00000434560.2:p.Arg392Gln
ENST00000646564.2:c.992G>A	ENSP00000495806.2:p.Arg331Gln
ENST00000155840.12:c.1532G>A MANE Select	ENSP00000155840.2:p.Arg511Gln
ENST00000335475.6:c.1151G>A	ENSP00000334497.5:p.Arg384Gln
ENST00000646564.1:c.638G>A	ENSP00000495806.1:p.Arg213Gln
ENST00000155840.9:c.1532G>A	ENSP00000155840.2:p.Arg511Gln
ENST00000335475.5:c.1151G>A	ENSP00000334497.5:p.Arg384Gln
NM_000218.2:c.1532G>A , LRG_287t1:c.1532G>A	NP_000209.2:p.Arg511Gln
NM_181798.1:c.1151G>A , LRG_287t2:c.1151G>A	NP_861463.1:p.Arg384Gln
NM_000218.3:c.1532G>A MANE Select	NP_000209.2:p.Arg511Gln