Canonical Allele Identifier: CA379135109

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1589969538
• MyVariant Identifiers: chr11:g.2610048C>G (hg19) ; chr11:g.2588818C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588818C>G , CM000673.2:g.2588818C>G	GRCh38
NC_000011.9:g.2610048C>G , CM000673.1:g.2610048C>G	GRCh37
NC_000011.8:g.2566624C>G	NCBI36
NG_008935.1:g.148828C>G , LRG_287:g.148828C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1000C>G	ENSP00000434560.2:p.Leu334Val
ENST00000646564.2:c.817C>G	ENSP00000495806.2:p.Leu273Val
ENST00000155840.12:c.1357C>G MANE Select	ENSP00000155840.2:p.Leu453Val
ENST00000335475.6:c.976C>G	ENSP00000334497.5:p.Leu326Val
ENST00000646564.1:c.463C>G	ENSP00000495806.1:p.Leu155Val
ENST00000155840.9:c.1357C>G	ENSP00000155840.2:p.Leu453Val
ENST00000335475.5:c.976C>G	ENSP00000334497.5:p.Leu326Val
NM_000218.2:c.1357C>G , LRG_287t1:c.1357C>G	NP_000209.2:p.Leu453Val
NM_181798.1:c.976C>G , LRG_287t2:c.976C>G	NP_861463.1:p.Leu326Val
NM_000218.3:c.1357C>G MANE Select	NP_000209.2:p.Leu453Val