Canonical Allele Identifier: CA379138969
Gene: KCNQ1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2768887A>C , CM000673.2:g.2768887A>C GRCh38
NC_000011.9:g.2790117A>C , CM000673.1:g.2790117A>C GRCh37
NC_000011.8:g.2746693A>C NCBI36
NG_008935.1:g.328897A>C , LRG_287:g.328897A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1201A>C ENSP00000434560.2:p.Met401Leu
ENST00000646564.2:c.1018A>C ENSP00000495806.2:p.Met340Leu
ENST00000155840.12:c.1558A>C MANE Select ENSP00000155840.2:p.Met520Leu
ENST00000335475.6:c.1177A>C ENSP00000334497.5:p.Met393Leu
ENST00000646564.1:c.664A>C ENSP00000495806.1:p.Met222Leu
ENST00000155840.9:c.1558A>C ENSP00000155840.2:p.Met520Leu
ENST00000335475.5:c.1177A>C ENSP00000334497.5:p.Met393Leu
NM_000218.2:c.1558A>C , LRG_287t1:c.1558A>C NP_000209.2:p.Met520Leu
NM_181798.1:c.1177A>C , LRG_287t2:c.1177A>C NP_861463.1:p.Met393Leu
NM_000218.3:c.1558A>C MANE Select NP_000209.2:p.Met520Leu