Canonical Allele Identifier: CA005607

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67025
• ClinVar RCV Id: RCV000057577 ; RCV001500920 ; RCV001841661
• dbSNP Id: rs199472780
• ExAC: 11:2610029 C / G
• gnomAD v2: 11-2610029-C-G
• gnomAD v3: 11-2588799-C-G
• gnomAD v4: 11-2588799-C-G
• MyVariant Identifiers: chr11:g.2610029C>G (hg19) ; chr11:g.2588799C>G (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588799C>G , CM000673.2:g.2588799C>G	GRCh38
NC_000011.9:g.2610029C>G , CM000673.1:g.2610029C>G	GRCh37
NC_000011.8:g.2566605C>G	NCBI36
NG_008935.1:g.148809C>G , LRG_287:g.148809C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.981C>G	ENSP00000434560.2:p.Asp327Glu
ENST00000646564.2:c.798C>G	ENSP00000495806.2:p.Asp266Glu
ENST00000155840.12:c.1338C>G MANE Select	ENSP00000155840.2:p.Asp446Glu
ENST00000335475.6:c.957C>G	ENSP00000334497.5:p.Asp319Glu
ENST00000646564.1:c.444C>G	ENSP00000495806.1:p.Asp148Glu
ENST00000155840.9:c.1338C>G	ENSP00000155840.2:p.Asp446Glu
ENST00000335475.5:c.957C>G	ENSP00000334497.5:p.Asp319Glu
NM_000218.2:c.1338C>G , LRG_287t1:c.1338C>G	NP_000209.2:p.Asp446Glu
NM_181798.1:c.957C>G , LRG_287t2:c.957C>G	NP_861463.1:p.Asp319Glu
NM_000218.3:c.1338C>G MANE Select	NP_000209.2:p.Asp446Glu