Canonical Allele Identifier: CA1948334788
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2818521C= , CM000673.2:g.2818521C= GRCh38
NC_000011.9:g.2839751C= , CM000673.1:g.2839751C= GRCh37
NC_000011.8:g.2796327C= NCBI36
NG_008935.1:g.378531C= , LRG_287:g.378531C=

Transcript Alleles

HGVS Amino-acid Change
NM_000218.3:c.1795-29246C= MANE Select NP_000209.2:n.1795-29246C=
ENST00000155840.12:c.1795-29246C= MANE Select ENSP00000155840.2:n.1795-29246C=
NM_000218.2:c.1795-29246C= , LRG_287t1:c.1795-29246C= NP_000209.2:n.1795-29246C=
NM_181798.1:c.1414-29246C= , LRG_287t2:c.1414-29246C= NP_861463.1:n.1414-29246C=
ENST00000155840.9:c.1795-29246C= ENSP00000155840.2:n.1795-29246C=
ENST00000335475.5:c.1414-29246C= ENSP00000334497.5:n.1414-29246C=
ENST00000335475.6:c.1414-29246C= ENSP00000334497.5:n.1414-29246C=
ENST00000496887.7:c.1438-29246C= ENSP00000434560.2:n.1438-29246C=
ENST00000526095.1:n.302-29246C=
ENST00000526095.2:c.199-29246C= ENSP00000494939.1:n.199-29246C=
ENST00000646564.1:c.901-21195C= ENSP00000495806.1:n.901-21195C=
ENST00000646564.2:c.1255-21195C= ENSP00000495806.2:n.1255-21195C=