Canonical Allele Identifier: CA379133112

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 3070460
• ClinVar RCV Id: RCV004012970
• dbSNP Id: rs2133750928
• MyVariant Identifiers: chr11:g.2604758T>G (hg19) ; chr11:g.2583528T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583528T>G , CM000673.2:g.2583528T>G	GRCh38
NC_000011.9:g.2604758T>G , CM000673.1:g.2604758T>G	GRCh37
NC_000011.8:g.2561334T>G	NCBI36
NG_008935.1:g.143538T>G , LRG_287:g.143538T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.754T>G	ENSP00000434560.2:p.Phe252Val
ENST00000646564.2:c.571T>G	ENSP00000495806.2:p.Phe191Val
ENST00000155840.12:c.1015T>G MANE Select	ENSP00000155840.2:p.Phe339Val
ENST00000335475.6:c.634T>G	ENSP00000334497.5:p.Phe212Val
ENST00000646564.1:c.217T>G	ENSP00000495806.1:p.Phe73Val
ENST00000155840.9:c.1015T>G	ENSP00000155840.2:p.Phe339Val
ENST00000335475.5:c.634T>G	ENSP00000334497.5:p.Phe212Val
NM_000218.2:c.1015T>G , LRG_287t1:c.1015T>G	NP_000209.2:p.Phe339Val
NM_181798.1:c.634T>G , LRG_287t2:c.634T>G	NP_861463.1:p.Phe212Val
NM_000218.3:c.1015T>G MANE Select	NP_000209.2:p.Phe339Val