Canonical Allele Identifier: CA1948315058
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2777922G= , CM000673.2:g.2777922G= GRCh38
NC_000011.9:g.2799152G= , CM000673.1:g.2799152G= GRCh37
NC_000011.8:g.2755728G= NCBI36
NG_008935.1:g.337932G= , LRG_287:g.337932G=

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.1376-54G= ENSP00000434560.2:n.1376-54G=
ENST00000646564.2:c.1193-54G= ENSP00000495806.2:n.1193-54G=
ENST00000155840.12:c.1733-54G= MANE Select ENSP00000155840.2:n.1733-54G=
ENST00000335475.6:c.1352-54G= ENSP00000334497.5:n.1352-54G=
ENST00000526095.2:c.137-54G= ENSP00000494939.1:n.137-54G=
ENST00000646564.1:c.839-54G= ENSP00000495806.1:n.839-54G=
ENST00000155840.9:c.1733-54G= ENSP00000155840.2:n.1733-54G=
ENST00000335475.5:c.1352-54G= ENSP00000334497.5:n.1352-54G=
ENST00000526095.1:n.240-54G=
NM_000218.2:c.1733-54G= , LRG_287t1:c.1733-54G= NP_000209.2:n.1733-54G=
NM_181798.1:c.1352-54G= , LRG_287t2:c.1352-54G= NP_861463.1:n.1352-54G=
NM_000218.3:c.1733-54G= MANE Select NP_000209.2:n.1733-54G=