Canonical Allele Identifier: CA379132965

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2604675C>G (hg19) ; chr11:g.2583445C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583445C>G , CM000673.2:g.2583445C>G	GRCh38
NC_000011.9:g.2604675C>G , CM000673.1:g.2604675C>G	GRCh37
NC_000011.8:g.2561251C>G	NCBI36
NG_008935.1:g.143455C>G , LRG_287:g.143455C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.671C>G	ENSP00000434560.2:p.Thr224Ser
ENST00000646564.2:c.488C>G	ENSP00000495806.2:p.Thr163Ser
ENST00000155840.12:c.932C>G MANE Select	ENSP00000155840.2:p.Thr311Ser
ENST00000335475.6:c.551C>G	ENSP00000334497.5:p.Thr184Ser
ENST00000646564.1:c.134C>G	ENSP00000495806.1:p.Thr45Ser
ENST00000155840.9:c.932C>G	ENSP00000155840.2:p.Thr311Ser
ENST00000335475.5:c.551C>G	ENSP00000334497.5:p.Thr184Ser
NM_000218.2:c.932C>G , LRG_287t1:c.932C>G	NP_000209.2:p.Thr311Ser
NM_181798.1:c.551C>G , LRG_287t2:c.551C>G	NP_861463.1:p.Thr184Ser
NM_000218.3:c.932C>G MANE Select	NP_000209.2:p.Thr311Ser