Canonical Allele Identifier: CA472038401

Gene: KCNQ1

Linked Data

• COSMIC: COSM3446446 ; COSM3446447
• MyVariant Identifiers: chr11:g.2604676C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583446C>A , CM000673.2:g.2583446C>A	GRCh38
NC_000011.9:g.2604676C>A , CM000673.1:g.2604676C>A	GRCh37
NC_000011.8:g.2561252C>A	NCBI36
NG_008935.1:g.143456C>A , LRG_287:g.143456C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.672C>A	ENSP00000434560.2:p.Thr224=
ENST00000646564.2:c.489C>A	ENSP00000495806.2:p.Thr163=
ENST00000155840.12:c.933C>A MANE Select	ENSP00000155840.2:p.Thr311=
ENST00000335475.6:c.552C>A	ENSP00000334497.5:p.Thr184=
ENST00000646564.1:c.135C>A	ENSP00000495806.1:p.Thr45=
ENST00000155840.9:c.933C>A	ENSP00000155840.2:p.Thr311=
ENST00000335475.5:c.552C>A	ENSP00000334497.5:p.Thr184=
NM_000218.2:c.933C>A , LRG_287t1:c.933C>A	NP_000209.2:p.Thr311=
NM_181798.1:c.552C>A , LRG_287t2:c.552C>A	NP_861463.1:p.Thr184=
NM_000218.3:c.933C>A MANE Select	NP_000209.2:p.Thr311=