Canonical Allele Identifier: CA379133069

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2604737T>C (hg19) ; chr11:g.2583507T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583507T>C , CM000673.2:g.2583507T>C	GRCh38
NC_000011.9:g.2604737T>C , CM000673.1:g.2604737T>C	GRCh37
NC_000011.8:g.2561313T>C	NCBI36
NG_008935.1:g.143517T>C , LRG_287:g.143517T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.733T>C	ENSP00000434560.2:p.Phe245Leu
ENST00000646564.2:c.550T>C	ENSP00000495806.2:p.Phe184Leu
ENST00000155840.12:c.994T>C MANE Select	ENSP00000155840.2:p.Phe332Leu
ENST00000335475.6:c.613T>C	ENSP00000334497.5:p.Phe205Leu
ENST00000646564.1:c.196T>C	ENSP00000495806.1:p.Phe66Leu
ENST00000155840.9:c.994T>C	ENSP00000155840.2:p.Phe332Leu
ENST00000335475.5:c.613T>C	ENSP00000334497.5:p.Phe205Leu
NM_000218.2:c.994T>C , LRG_287t1:c.994T>C	NP_000209.2:p.Phe332Leu
NM_181798.1:c.613T>C , LRG_287t2:c.613T>C	NP_861463.1:p.Phe205Leu
NM_000218.3:c.994T>C MANE Select	NP_000209.2:p.Phe332Leu