Canonical Allele Identifier: CA379133000

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1589965303
• COSMIC: COSM5724911 ; COSM5724912
• MyVariant Identifiers: chr11:g.2604699T>G (hg19) ; chr11:g.2583469T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583469T>G , CM000673.2:g.2583469T>G	GRCh38
NC_000011.9:g.2604699T>G , CM000673.1:g.2604699T>G	GRCh37
NC_000011.8:g.2561275T>G	NCBI36
NG_008935.1:g.143479T>G , LRG_287:g.143479T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.695T>G	ENSP00000434560.2:p.Val232Gly
ENST00000646564.2:c.512T>G	ENSP00000495806.2:p.Val171Gly
ENST00000155840.12:c.956T>G MANE Select	ENSP00000155840.2:p.Val319Gly
ENST00000335475.6:c.575T>G	ENSP00000334497.5:p.Val192Gly
ENST00000646564.1:c.158T>G	ENSP00000495806.1:p.Val53Gly
ENST00000155840.9:c.956T>G	ENSP00000155840.2:p.Val319Gly
ENST00000335475.5:c.575T>G	ENSP00000334497.5:p.Val192Gly
NM_000218.2:c.956T>G , LRG_287t1:c.956T>G	NP_000209.2:p.Val319Gly
NM_181798.1:c.575T>G , LRG_287t2:c.575T>G	NP_861463.1:p.Val192Gly
NM_000218.3:c.956T>G MANE Select	NP_000209.2:p.Val319Gly