Canonical Allele Identifier: CA472465641

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2799255A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778025A>T , CM000673.2:g.2778025A>T	GRCh38
NC_000011.9:g.2799255A>T , CM000673.1:g.2799255A>T	GRCh37
NC_000011.8:g.2755831A>T	NCBI36
NG_008935.1:g.338035A>T , LRG_287:g.338035A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1425A>T	ENSP00000434560.2:p.Arg475=
ENST00000646564.2:c.1242A>T	ENSP00000495806.2:p.Arg414=
ENST00000155840.12:c.1782A>T MANE Select	ENSP00000155840.2:p.Arg594=
ENST00000335475.6:c.1401A>T	ENSP00000334497.5:p.Arg467=
ENST00000526095.2:c.186A>T	ENSP00000494939.1:p.Arg62=
ENST00000646564.1:c.888A>T	ENSP00000495806.1:p.Arg296=
ENST00000155840.9:c.1782A>T	ENSP00000155840.2:p.Arg594=
ENST00000335475.5:c.1401A>T	ENSP00000334497.5:p.Arg467=
ENST00000526095.1:n.289A>T
NM_000218.2:c.1782A>T , LRG_287t1:c.1782A>T	NP_000209.2:p.Arg594=
NM_181798.1:c.1401A>T , LRG_287t2:c.1401A>T	NP_861463.1:p.Arg467=
NM_000218.3:c.1782A>T MANE Select	NP_000209.2:p.Arg594=