Canonical Allele Identifier: CA379117343
Gene: KCNQ1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445400T>C , CM000673.2:g.2445400T>C GRCh38
NC_000011.9:g.2466630T>C , CM000673.1:g.2466630T>C GRCh37
NC_000011.8:g.2423206T>C NCBI36
NG_008935.1:g.5410T>C , LRG_287:g.5410T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.41T>C ENSP00000434560.2:p.Leu14Ser
ENST00000646564.2:c.302T>C ENSP00000495806.2:p.Leu101Ser
ENST00000155840.12:c.302T>C MANE Select ENSP00000155840.2:p.Leu101Ser
ENST00000155840.9:c.302T>C ENSP00000155840.2:p.Leu101Ser
ENST00000345015.4:n.79T>C
ENST00000496887.6:c.41T>C ENSP00000434560.1:p.Leu14Ser
NM_000218.2:c.302T>C , LRG_287t1:c.302T>C NP_000209.2:p.Leu101Ser
NM_000218.3:c.302T>C MANE Select NP_000209.2:p.Leu101Ser