Canonical Allele Identifier: CA379131590
Gene: KCNQ1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572937C>G , CM000673.2:g.2572937C>G GRCh38
NC_000011.9:g.2594167C>G , CM000673.1:g.2594167C>G GRCh37
NC_000011.8:g.2550743C>G NCBI36
NG_008935.1:g.132947C>G , LRG_287:g.132947C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.611C>G ENSP00000434560.2:p.Ser204Ter
ENST00000646564.2:c.478-10498C>G ENSP00000495806.2:n.478-10498C>G
ENST00000155840.12:c.872C>G MANE Select ENSP00000155840.2:p.Ser291Ter
ENST00000335475.6:c.491C>G ENSP00000334497.5:p.Ser164Ter
ENST00000646564.1:c.124-10498C>G ENSP00000495806.1:n.124-10498C>G
ENST00000155840.9:c.872C>G ENSP00000155840.2:p.Ser291Ter
ENST00000335475.5:c.491C>G ENSP00000334497.5:p.Ser164Ter
NM_000218.2:c.872C>G , LRG_287t1:c.872C>G NP_000209.2:p.Ser291Ter
NM_181798.1:c.491C>G , LRG_287t2:c.491C>G NP_861463.1:p.Ser164Ter
NM_000218.3:c.872C>G MANE Select NP_000209.2:p.Ser291Ter