Canonical Allele Identifier: CA1948160707
Community Standard Title: NM_000218.3(KCNQ1):c.2T= (p.Met1=)
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445100T= , CM000673.2:g.2445100T= GRCh38
NC_000011.9:g.2466330T= , CM000673.1:g.2466330T= GRCh37
NC_000011.8:g.2422906T= NCBI36
NG_008935.1:g.5110T= , LRG_287:g.5110T=

Transcript Alleles

HGVS Amino-acid Change
NM_000218.3:c.2T= MANE Select NP_000209.2:p.Met1=
ENST00000155840.12:c.2T= MANE Select ENSP00000155840.2:p.Met1=
NM_000218.2:c.2T= , LRG_287t1:c.2T= NP_000209.2:p.Met1=
ENST00000155840.9:c.2T= ENSP00000155840.2:p.Met1=
ENST00000496887.6:c.24-283T= ENSP00000434560.1:n.24-283T=
ENST00000496887.7:c.24-283T= ENSP00000434560.2:n.24-283T=
ENST00000646564.2:c.2T= ENSP00000495806.2:p.Met1=