Canonical Allele Identifier: CA1948343150
Community Standard Title: NM_000218.3(KCNQ1):c.1795-11803A=
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2835964A= , CM000673.2:g.2835964A= GRCh38
NC_000011.9:g.2857194A= , CM000673.1:g.2857194A= GRCh37
NC_000011.8:g.2813770A= NCBI36
NG_008935.1:g.395974A= , LRG_287:g.395974A=

Transcript Alleles

HGVS Amino-acid Change
NM_000218.3:c.1795-11803A= MANE Select NP_000209.2:n.1795-11803A=
ENST00000155840.12:c.1795-11803A= MANE Select ENSP00000155840.2:n.1795-11803A=
NM_000218.2:c.1795-11803A= , LRG_287t1:c.1795-11803A= NP_000209.2:n.1795-11803A=
NM_181798.1:c.1414-11803A= , LRG_287t2:c.1414-11803A= NP_861463.1:n.1414-11803A=
ENST00000155840.9:c.1795-11803A= ENSP00000155840.2:n.1795-11803A=
ENST00000335475.5:c.1414-11803A= ENSP00000334497.5:n.1414-11803A=
ENST00000335475.6:c.1414-11803A= ENSP00000334497.5:n.1414-11803A=
ENST00000496887.7:c.1438-11803A= ENSP00000434560.2:n.1438-11803A=
ENST00000526095.1:n.302-11803A=
ENST00000526095.2:c.199-11803A= ENSP00000494939.1:n.199-11803A=
ENST00000646564.1:c.901-3752A= ENSP00000495806.1:n.901-3752A=
ENST00000646564.2:c.1255-3752A= ENSP00000495806.2:n.1255-3752A=