Canonical Allele Identifier: CA379133055

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2604731T>G (hg19) ; chr11:g.2583501T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583501T>G , CM000673.2:g.2583501T>G	GRCh38
NC_000011.9:g.2604731T>G , CM000673.1:g.2604731T>G	GRCh37
NC_000011.8:g.2561307T>G	NCBI36
NG_008935.1:g.143511T>G , LRG_287:g.143511T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.727T>G	ENSP00000434560.2:p.Ser243Ala
ENST00000646564.2:c.544T>G	ENSP00000495806.2:p.Ser182Ala
ENST00000155840.12:c.988T>G MANE Select	ENSP00000155840.2:p.Ser330Ala
ENST00000335475.6:c.607T>G	ENSP00000334497.5:p.Ser203Ala
ENST00000646564.1:c.190T>G	ENSP00000495806.1:p.Ser64Ala
ENST00000155840.9:c.988T>G	ENSP00000155840.2:p.Ser330Ala
ENST00000335475.5:c.607T>G	ENSP00000334497.5:p.Ser203Ala
NM_000218.2:c.988T>G , LRG_287t1:c.988T>G	NP_000209.2:p.Ser330Ala
NM_181798.1:c.607T>G , LRG_287t2:c.607T>G	NP_861463.1:p.Ser203Ala
NM_000218.3:c.988T>G MANE Select	NP_000209.2:p.Ser330Ala