Canonical Allele Identifier: CA1948310045
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2768888T= , CM000673.2:g.2768888T= GRCh38
NC_000011.9:g.2790118T= , CM000673.1:g.2790118T= GRCh37
NC_000011.8:g.2746694T= NCBI36
NG_008935.1:g.328898T= , LRG_287:g.328898T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1202T= ENSP00000434560.2:p.Met401=
ENST00000646564.2:c.1019T= ENSP00000495806.2:p.Met340=
ENST00000155840.12:c.1559T= MANE Select ENSP00000155840.2:p.Met520=
ENST00000335475.6:c.1178T= ENSP00000334497.5:p.Met393=
ENST00000646564.1:c.665T= ENSP00000495806.1:p.Met222=
ENST00000155840.9:c.1559T= ENSP00000155840.2:p.Met520=
ENST00000335475.5:c.1178T= ENSP00000334497.5:p.Met393=
NM_000218.2:c.1559T= , LRG_287t1:c.1559T= NP_000209.2:p.Met520=
NM_181798.1:c.1178T= , LRG_287t2:c.1178T= NP_861463.1:p.Met393=
NM_000218.3:c.1559T= MANE Select NP_000209.2:p.Met520=