Canonical Allele Identifier: CA472038394
Gene: KCNQ1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.2604667C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583437C>T , CM000673.2:g.2583437C>T GRCh38
NC_000011.9:g.2604667C>T , CM000673.1:g.2604667C>T GRCh37
NC_000011.8:g.2561243C>T NCBI36
NG_008935.1:g.143447C>T , LRG_287:g.143447C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.663C>T ENSP00000434560.2:p.Val221=
ENST00000646564.2:c.480C>T ENSP00000495806.2:p.Val160=
ENST00000155840.12:c.924C>T MANE Select ENSP00000155840.2:p.Val308=
ENST00000335475.6:c.543C>T ENSP00000334497.5:p.Val181=
ENST00000646564.1:c.126C>T ENSP00000495806.1:p.Val42=
ENST00000155840.9:c.924C>T ENSP00000155840.2:p.Val308=
ENST00000335475.5:c.543C>T ENSP00000334497.5:p.Val181=
NM_000218.2:c.924C>T , LRG_287t1:c.924C>T NP_000209.2:p.Val308=
NM_181798.1:c.543C>T , LRG_287t2:c.543C>T NP_861463.1:p.Val181=
NM_000218.3:c.924C>T MANE Select NP_000209.2:p.Val308=