Canonical Allele Identifier: CA379133080

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2604741C>G (hg19) ; chr11:g.2583511C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583511C>G , CM000673.2:g.2583511C>G	GRCh38
NC_000011.9:g.2604741C>G , CM000673.1:g.2604741C>G	GRCh37
NC_000011.8:g.2561317C>G	NCBI36
NG_008935.1:g.143521C>G , LRG_287:g.143521C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.737C>G	ENSP00000434560.2:p.Ser246Cys
ENST00000646564.2:c.554C>G	ENSP00000495806.2:p.Ser185Cys
ENST00000155840.12:c.998C>G MANE Select	ENSP00000155840.2:p.Ser333Cys
ENST00000335475.6:c.617C>G	ENSP00000334497.5:p.Ser206Cys
ENST00000646564.1:c.200C>G	ENSP00000495806.1:p.Ser67Cys
ENST00000155840.9:c.998C>G	ENSP00000155840.2:p.Ser333Cys
ENST00000335475.5:c.617C>G	ENSP00000334497.5:p.Ser206Cys
NM_000218.2:c.998C>G , LRG_287t1:c.998C>G	NP_000209.2:p.Ser333Cys
NM_181798.1:c.617C>G , LRG_287t2:c.617C>G	NP_861463.1:p.Ser206Cys
NM_000218.3:c.998C>G MANE Select	NP_000209.2:p.Ser333Cys