Canonical Allele Identifier: CA006297
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3142
dbSNP Id: rs17221854

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2777990C>T , CM000673.2:g.2777990C>T GRCh38
NC_000011.9:g.2799220C>T , CM000673.1:g.2799220C>T GRCh37
NC_000011.8:g.2755796C>T NCBI36
NG_008935.1:g.338000C>T , LRG_287:g.338000C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000155840.12:c.1747C>T MANE Select ENSP00000155840.2:p.Arg583Cys
ENST00000335475.6:c.1366C>T ENSP00000334497.5:p.Arg456Cys
ENST00000526095.2:c.151C>T ENSP00000494939.1:p.Arg51Cys
ENST00000646564.1:n.853C>T ENSP00000495806.1:p.Arg285Cys
ENST00000155840.9:c.1747C>T ENSP00000155840.2:p.Arg583Cys
ENST00000335475.5:c.1366C>T ENSP00000334497.5:p.Arg456Cys
ENST00000526095.1:n.254C>T
NM_000218.2:c.1747C>T , LRG_287t1:c.1747C>T NP_000209.2:p.Arg583Cys
NM_181798.1:c.1366C>T , LRG_287t2:c.1366C>T NP_861463.1:p.Arg456Cys
NM_000218.3:c.1747C>T MANE Select NP_000209.2:p.Arg583Cys