Canonical Allele Identifier: CA379139268

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2798218T>G (hg19) ; chr11:g.2776988T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776988T>G , CM000673.2:g.2776988T>G	GRCh38
NC_000011.9:g.2798218T>G , CM000673.1:g.2798218T>G	GRCh37
NC_000011.8:g.2754794T>G	NCBI36
NG_008935.1:g.336998T>G , LRG_287:g.336998T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1331T>G	ENSP00000434560.2:p.Leu444Arg
ENST00000646564.2:c.1148T>G	ENSP00000495806.2:p.Leu383Arg
ENST00000155840.12:c.1688T>G MANE Select	ENSP00000155840.2:p.Leu563Arg
ENST00000335475.6:c.1307T>G	ENSP00000334497.5:p.Leu436Arg
ENST00000646564.1:c.794T>G	ENSP00000495806.1:p.Leu265Arg
ENST00000155840.9:c.1688T>G	ENSP00000155840.2:p.Leu563Arg
ENST00000335475.5:c.1307T>G	ENSP00000334497.5:p.Leu436Arg
NM_000218.2:c.1688T>G , LRG_287t1:c.1688T>G	NP_000209.2:p.Leu563Arg
NM_181798.1:c.1307T>G , LRG_287t2:c.1307T>G	NP_861463.1:p.Leu436Arg
NM_000218.3:c.1688T>G MANE Select	NP_000209.2:p.Leu563Arg