Canonical Allele Identifier: CA1948339415
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2828342C= , CM000673.2:g.2828342C= GRCh38
NC_000011.9:g.2849572C= , CM000673.1:g.2849572C= GRCh37
NC_000011.8:g.2806148C= NCBI36
NG_008935.1:g.388352C= , LRG_287:g.388352C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1438-19425C= ENSP00000434560.2:n.1438-19425C=
ENST00000646564.2:c.1255-11374C= ENSP00000495806.2:n.1255-11374C=
ENST00000155840.12:c.1795-19425C= MANE Select ENSP00000155840.2:n.1795-19425C=
ENST00000335475.6:c.1414-19425C= ENSP00000334497.5:n.1414-19425C=
ENST00000526095.2:c.199-19425C= ENSP00000494939.1:n.199-19425C=
ENST00000646564.1:c.901-11374C= ENSP00000495806.1:n.901-11374C=
ENST00000155840.9:c.1795-19425C= ENSP00000155840.2:n.1795-19425C=
ENST00000335475.5:c.1414-19425C= ENSP00000334497.5:n.1414-19425C=
ENST00000526095.1:n.302-19425C=
NM_000218.2:c.1795-19425C= , LRG_287t1:c.1795-19425C= NP_000209.2:n.1795-19425C=
NM_181798.1:c.1414-19425C= , LRG_287t2:c.1414-19425C= NP_861463.1:n.1414-19425C=
NM_000218.3:c.1795-19425C= MANE Select NP_000209.2:n.1795-19425C=