Canonical Allele Identifier: CA1948196756
Community Standard Title: NM_000218.3(KCNQ1):c.418A= (p.Ser140=)
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2527959A= , CM000673.2:g.2527959A= GRCh38
NC_000011.9:g.2549189A= , CM000673.1:g.2549189A= GRCh37
NC_000011.8:g.2505765A= NCBI36
NG_008935.1:g.87969A= , LRG_287:g.87969A=

Transcript Alleles

HGVS Amino-acid Change
NM_000218.3:c.418A= MANE Select NP_000209.2:p.Ser140=
ENST00000155840.12:c.418A= MANE Select ENSP00000155840.2:p.Ser140=
NM_000218.2:c.418A= , LRG_287t1:c.418A= NP_000209.2:p.Ser140=
NM_181798.1:c.37A= , LRG_287t2:c.37A= NP_861463.1:p.Ser13=
ENST00000155840.9:c.418A= ENSP00000155840.2:p.Ser140=
ENST00000335475.5:c.37A= ENSP00000334497.5:p.Ser13=
ENST00000335475.6:c.37A= ENSP00000334497.5:p.Ser13=
ENST00000345015.4:n.287A=
ENST00000380776.4:c.208A= ENSP00000370153.4:p.Ser70=
ENST00000380776.5:n.215A=
ENST00000496887.6:c.157A= ENSP00000434560.1:p.Ser53=
ENST00000496887.7:c.157A= ENSP00000434560.2:p.Ser53=
ENST00000646564.1:c.64A= ENSP00000495806.1:p.Ser22=
ENST00000646564.2:c.418A= ENSP00000495806.2:p.Ser140=