Canonical Allele Identifier: CA1948350292
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2849017T= , CM000673.2:g.2849017T= GRCh38
NC_000011.9:g.2870247T= , CM000673.1:g.2870247T= GRCh37
NC_000011.8:g.2826823T= NCBI36
NG_008935.1:g.409027T= , LRG_287:g.409027T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000155840.12:c.*1014T= (KCNQ1) MANE Select ENSP00000155840.2:n.*1014T=
ENST00000155840.9:c.*1014T= (KCNQ1) ENSP00000155840.2:n.*1014T=
NM_000218.2:c.*1014T= , LRG_287t1:c.*1014T= (KCNQ1) NP_000209.2:n.*1014T=
NM_181798.1:c.*1014T= , LRG_287t2:c.*1014T= (KCNQ1) NP_861463.1:n.*1014T=
NR_130721.1:n.778-8575A= (KCNQ1-AS1)
NM_000218.3:c.*1014T= (KCNQ1) MANE Select NP_000209.2:n.*1014T=