Canonical Allele Identifier: CA472459454

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2790113A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768883A>C , CM000673.2:g.2768883A>C	GRCh38
NC_000011.9:g.2790113A>C , CM000673.1:g.2790113A>C	GRCh37
NC_000011.8:g.2746689A>C	NCBI36
NG_008935.1:g.328893A>C , LRG_287:g.328893A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1197A>C	ENSP00000434560.2:p.Arg399=
ENST00000646564.2:c.1014A>C	ENSP00000495806.2:p.Arg338=
ENST00000155840.12:c.1554A>C MANE Select	ENSP00000155840.2:p.Arg518=
ENST00000335475.6:c.1173A>C	ENSP00000334497.5:p.Arg391=
ENST00000646564.1:c.660A>C	ENSP00000495806.1:p.Arg220=
ENST00000155840.9:c.1554A>C	ENSP00000155840.2:p.Arg518=
ENST00000335475.5:c.1173A>C	ENSP00000334497.5:p.Arg391=
NM_000218.2:c.1554A>C , LRG_287t1:c.1554A>C	NP_000209.2:p.Arg518=
NM_181798.1:c.1173A>C , LRG_287t2:c.1173A>C	NP_861463.1:p.Arg391=
NM_000218.3:c.1554A>C MANE Select	NP_000209.2:p.Arg518=