Canonical Allele Identifier: CA379132988

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2583464-C-G
• MyVariant Identifiers: chr11:g.2604694C>G (hg19) ; chr11:g.2583464C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583464C>G , CM000673.2:g.2583464C>G	GRCh38
NC_000011.9:g.2604694C>G , CM000673.1:g.2604694C>G	GRCh37
NC_000011.8:g.2561270C>G	NCBI36
NG_008935.1:g.143474C>G , LRG_287:g.143474C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.690C>G	ENSP00000434560.2:p.Asp230Glu
ENST00000646564.2:c.507C>G	ENSP00000495806.2:p.Asp169Glu
ENST00000155840.12:c.951C>G MANE Select	ENSP00000155840.2:p.Asp317Glu
ENST00000335475.6:c.570C>G	ENSP00000334497.5:p.Asp190Glu
ENST00000646564.1:c.153C>G	ENSP00000495806.1:p.Asp51Glu
ENST00000155840.9:c.951C>G	ENSP00000155840.2:p.Asp317Glu
ENST00000335475.5:c.570C>G	ENSP00000334497.5:p.Asp190Glu
NM_000218.2:c.951C>G , LRG_287t1:c.951C>G	NP_000209.2:p.Asp317Glu
NM_181798.1:c.570C>G , LRG_287t2:c.570C>G	NP_861463.1:p.Asp190Glu
NM_000218.3:c.951C>G MANE Select	NP_000209.2:p.Asp317Glu