Canonical Allele Identifier: CA379133087
Gene: KCNQ1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583514T>G , CM000673.2:g.2583514T>G GRCh38
NC_000011.9:g.2604744T>G , CM000673.1:g.2604744T>G GRCh37
NC_000011.8:g.2561320T>G NCBI36
NG_008935.1:g.143524T>G , LRG_287:g.143524T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.740T>G ENSP00000434560.2:p.Val247Gly
ENST00000646564.2:c.557T>G ENSP00000495806.2:p.Val186Gly
ENST00000155840.12:c.1001T>G MANE Select ENSP00000155840.2:p.Val334Gly
ENST00000335475.6:c.620T>G ENSP00000334497.5:p.Val207Gly
ENST00000646564.1:c.203T>G ENSP00000495806.1:p.Val68Gly
ENST00000155840.9:c.1001T>G ENSP00000155840.2:p.Val334Gly
ENST00000335475.5:c.620T>G ENSP00000334497.5:p.Val207Gly
NM_000218.2:c.1001T>G , LRG_287t1:c.1001T>G NP_000209.2:p.Val334Gly
NM_181798.1:c.620T>G , LRG_287t2:c.620T>G NP_861463.1:p.Val207Gly
NM_000218.3:c.1001T>G MANE Select NP_000209.2:p.Val334Gly