Canonical Allele Identifier: CA1948349613
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847825C= , CM000673.2:g.2847825C= GRCh38
NC_000011.9:g.2869055C= , CM000673.1:g.2869055C= GRCh37
NC_000011.8:g.2825631C= NCBI36
NG_008935.1:g.407835C= , LRG_287:g.407835C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1496C= (KCNQ1) ENSP00000434560.2:p.Ser499=
ENST00000155840.12:c.1853C= (KCNQ1) MANE Select ENSP00000155840.2:p.Ser618=
ENST00000335475.6:c.1472C= (KCNQ1) ENSP00000334497.5:p.Ser491=
ENST00000526095.2:c.257C= (KCNQ1) ENSP00000494939.1:p.Ser86=
ENST00000155840.9:c.1853C= (KCNQ1) ENSP00000155840.2:p.Ser618=
ENST00000335475.5:c.1472C= (KCNQ1) ENSP00000334497.5:p.Ser491=
ENST00000526095.1:n.360C= (KCNQ1)
NM_000218.2:c.1853C= , LRG_287t1:c.1853C= (KCNQ1) NP_000209.2:p.Ser618=
NM_181798.1:c.1472C= , LRG_287t2:c.1472C= (KCNQ1) NP_861463.1:p.Ser491=
NR_130721.1:n.778-7383G= (KCNQ1-AS1)
NM_000218.3:c.1853C= (KCNQ1) MANE Select NP_000209.2:p.Ser618=