Canonical Allele Identifier: CA041271

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 2164525
• ClinVar RCV Id: RCV003088074
• dbSNP Id: rs772710737
• ExAC: 11:2594186 C / A
• gnomAD v2: 11-2594186-C-A
• gnomAD v4: 11-2572956-C-A
• MyVariant Identifiers: chr11:g.2594186C>A (hg19) ; chr11:g.2572956C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572956C>A , CM000673.2:g.2572956C>A	GRCh38
NC_000011.9:g.2594186C>A , CM000673.1:g.2594186C>A	GRCh37
NC_000011.8:g.2550762C>A	NCBI36
NG_008935.1:g.132966C>A , LRG_287:g.132966C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.630C>A	ENSP00000434560.2:p.Gly210=
ENST00000646564.2:c.478-10479C>A	ENSP00000495806.2:n.478-10479C>A
ENST00000155840.12:c.891C>A MANE Select	ENSP00000155840.2:p.Gly297=
ENST00000335475.6:c.510C>A	ENSP00000334497.5:p.Gly170=
ENST00000646564.1:c.124-10479C>A	ENSP00000495806.1:n.124-10479C>A
ENST00000155840.9:c.891C>A	ENSP00000155840.2:p.Gly297=
ENST00000335475.5:c.510C>A	ENSP00000334497.5:p.Gly170=
NM_000218.2:c.891C>A , LRG_287t1:c.891C>A	NP_000209.2:p.Gly297=
NM_181798.1:c.510C>A , LRG_287t2:c.510C>A	NP_861463.1:p.Gly170=
NM_000218.3:c.891C>A MANE Select	NP_000209.2:p.Gly297=