Canonical Allele Identifier: CA379130699

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571394C>G , CM000673.2:g.2571394C>G	GRCh38
NC_000011.9:g.2592624C>G , CM000673.1:g.2592624C>G	GRCh37
NC_000011.8:g.2549200C>G	NCBI36
NG_008935.1:g.131404C>G , LRG_287:g.131404C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.674C>G MANE Select	NP_000209.2:p.Ser225Trp
ENST00000155840.12:c.674C>G MANE Select	ENSP00000155840.2:p.Ser225Trp
NM_000218.2:c.674C>G , LRG_287t1:c.674C>G	NP_000209.2:p.Ser225Trp
NM_181798.1:c.293C>G , LRG_287t2:c.293C>G	NP_861463.1:p.Ser98Trp
ENST00000155840.9:c.674C>G	ENSP00000155840.2:p.Ser225Trp
ENST00000335475.5:c.293C>G	ENSP00000334497.5:p.Ser98Trp
ENST00000335475.6:c.293C>G	ENSP00000334497.5:p.Ser98Trp
ENST00000496887.6:c.413C>G	ENSP00000434560.1:p.Ser138Trp
ENST00000496887.7:c.413C>G	ENSP00000434560.2:p.Ser138Trp
ENST00000646564.1:c.124-12041C>G	ENSP00000495806.1:n.124-12041C>G
ENST00000646564.2:c.478-12041C>G	ENSP00000495806.2:n.478-12041C>G