Canonical Allele Identifier: CA1948309542
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2768504A= , CM000673.2:g.2768504A= GRCh38
NC_000011.9:g.2789734A= , CM000673.1:g.2789734A= GRCh37
NC_000011.8:g.2746310A= NCBI36
NG_008935.1:g.328514A= , LRG_287:g.328514A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1158-340A= ENSP00000434560.2:n.1158-340A=
ENST00000646564.2:c.975-340A= ENSP00000495806.2:n.975-340A=
ENST00000155840.12:c.1515-340A= MANE Select ENSP00000155840.2:n.1515-340A=
ENST00000335475.6:c.1134-340A= ENSP00000334497.5:n.1134-340A=
ENST00000646564.1:c.621-340A= ENSP00000495806.1:n.621-340A=
ENST00000155840.9:c.1515-340A= ENSP00000155840.2:n.1515-340A=
ENST00000335475.5:c.1134-340A= ENSP00000334497.5:n.1134-340A=
NM_000218.2:c.1515-340A= , LRG_287t1:c.1515-340A= NP_000209.2:n.1515-340A=
NM_181798.1:c.1134-340A= , LRG_287t2:c.1134-340A= NP_861463.1:n.1134-340A=
NM_000218.3:c.1515-340A= MANE Select NP_000209.2:n.1515-340A=