Canonical Allele Identifier: CA1948315118
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2778021A= , CM000673.2:g.2778021A= GRCh38
NC_000011.9:g.2799251A= , CM000673.1:g.2799251A= GRCh37
NC_000011.8:g.2755827A= NCBI36
NG_008935.1:g.338031A= , LRG_287:g.338031A=

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.1421A= ENSP00000434560.2:p.Asn474=
ENST00000646564.2:c.1238A= ENSP00000495806.2:p.Asn413=
ENST00000155840.12:c.1778A= MANE Select ENSP00000155840.2:p.Asn593=
ENST00000335475.6:c.1397A= ENSP00000334497.5:p.Asn466=
ENST00000526095.2:c.182A= ENSP00000494939.1:p.Asn61=
ENST00000646564.1:c.884A= ENSP00000495806.1:p.Asn295=
ENST00000155840.9:c.1778A= ENSP00000155840.2:p.Asn593=
ENST00000335475.5:c.1397A= ENSP00000334497.5:p.Asn466=
ENST00000526095.1:n.285A=
NM_000218.2:c.1778A= , LRG_287t1:c.1778A= NP_000209.2:p.Asn593=
NM_181798.1:c.1397A= , LRG_287t2:c.1397A= NP_861463.1:p.Asn466=
NM_000218.3:c.1778A= MANE Select NP_000209.2:p.Asn593=