Canonical Allele Identifier: CA472038502

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1247919
• ClinVar RCV Id: RCV001644371 ; RCV002539583
• dbSNP Id: rs2133754700
• COSMIC: COSM3446452 ; COSM3446453
• MyVariant Identifiers: chr11:g.2606501C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585271C>T , CM000673.2:g.2585271C>T	GRCh38
NC_000011.9:g.2606501C>T , CM000673.1:g.2606501C>T	GRCh37
NC_000011.8:g.2563077C>T	NCBI36
NG_008935.1:g.145281C>T , LRG_287:g.145281C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.771+1726C>T	ENSP00000434560.2:n.771+1726C>T
ENST00000646564.2:c.588+1726C>T	ENSP00000495806.2:n.588+1726C>T
ENST00000155840.12:c.1092C>T MANE Select	ENSP00000155840.2:p.Phe364=
ENST00000335475.6:c.711C>T	ENSP00000334497.5:p.Phe237=
ENST00000646564.1:c.234+1726C>T	ENSP00000495806.1:n.234+1726C>T
ENST00000155840.9:c.1092C>T	ENSP00000155840.2:p.Phe364=
ENST00000335475.5:c.711C>T	ENSP00000334497.5:p.Phe237=
NM_000218.2:c.1092C>T , LRG_287t1:c.1092C>T	NP_000209.2:p.Phe364=
NM_181798.1:c.711C>T , LRG_287t2:c.711C>T	NP_861463.1:p.Phe237=
NM_000218.3:c.1092C>T MANE Select	NP_000209.2:p.Phe364=