Canonical Allele Identifier: CA008478

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67114
• ClinVar RCV Id: RCV000057780 ; RCV000520786 ; RCV003531950
• dbSNP Id: rs199473463
• MyVariant Identifiers: chr11:g.2594143C>G (hg19) ; chr11:g.2572913C>G (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572913C>G , CM000673.2:g.2572913C>G	GRCh38
NC_000011.9:g.2594143C>G , CM000673.1:g.2594143C>G	GRCh37
NC_000011.8:g.2550719C>G	NCBI36
NG_008935.1:g.132923C>G , LRG_287:g.132923C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.587C>G	ENSP00000434560.2:p.Ala196Gly
ENST00000646564.2:c.478-10522C>G	ENSP00000495806.2:n.478-10522C>G
ENST00000155840.12:c.848C>G MANE Select	ENSP00000155840.2:p.Ala283Gly
ENST00000335475.6:c.467C>G	ENSP00000334497.5:p.Ala156Gly
ENST00000646564.1:c.124-10522C>G	ENSP00000495806.1:n.124-10522C>G
ENST00000155840.9:c.848C>G	ENSP00000155840.2:p.Ala283Gly
ENST00000335475.5:c.467C>G	ENSP00000334497.5:p.Ala156Gly
NM_000218.2:c.848C>G , LRG_287t1:c.848C>G	NP_000209.2:p.Ala283Gly
NM_181798.1:c.467C>G , LRG_287t2:c.467C>G	NP_861463.1:p.Ala156Gly
NM_000218.3:c.848C>G MANE Select	NP_000209.2:p.Ala283Gly