Canonical Allele Identifier: CA008058
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 67102
ClinVar RCV Id: RCV000057745
dbSNP Id: rs199472714

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572073G>C , CM000673.2:g.2572073G>C GRCh38
NC_000011.9:g.2593303G>C , CM000673.1:g.2593303G>C GRCh37
NC_000011.8:g.2549879G>C NCBI36
NG_008935.1:g.132083G>C , LRG_287:g.132083G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.483G>C ENSP00000434560.2:p.Trp161Cys
ENST00000646564.2:c.478-11362G>C ENSP00000495806.2:n.478-11362G>C
ENST00000155840.12:c.744G>C MANE Select ENSP00000155840.2:p.Trp248Cys
ENST00000335475.6:c.363G>C ENSP00000334497.5:p.Trp121Cys
ENST00000646564.1:c.124-11362G>C ENSP00000495806.1:n.124-11362G>C
ENST00000155840.9:c.744G>C ENSP00000155840.2:p.Trp248Cys
ENST00000335475.5:c.363G>C ENSP00000334497.5:p.Trp121Cys
ENST00000496887.6:c.483G>C ENSP00000434560.1:p.Trp161Cys
NM_000218.2:c.744G>C , LRG_287t1:c.744G>C NP_000209.2:p.Trp248Cys
NM_181798.1:c.363G>C , LRG_287t2:c.363G>C NP_861463.1:p.Trp121Cys
NM_000218.3:c.744G>C MANE Select NP_000209.2:p.Trp248Cys