Canonical Allele Identifier: CA379132973

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2604680A>C (hg19) ; chr11:g.2583450A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583450A>C , CM000673.2:g.2583450A>C	GRCh38
NC_000011.9:g.2604680A>C , CM000673.1:g.2604680A>C	GRCh37
NC_000011.8:g.2561256A>C	NCBI36
NG_008935.1:g.143460A>C , LRG_287:g.143460A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.676A>C	ENSP00000434560.2:p.Ile226Leu
ENST00000646564.2:c.493A>C	ENSP00000495806.2:p.Ile165Leu
ENST00000155840.12:c.937A>C MANE Select	ENSP00000155840.2:p.Ile313Leu
ENST00000335475.6:c.556A>C	ENSP00000334497.5:p.Ile186Leu
ENST00000646564.1:c.139A>C	ENSP00000495806.1:p.Ile47Leu
ENST00000155840.9:c.937A>C	ENSP00000155840.2:p.Ile313Leu
ENST00000335475.5:c.556A>C	ENSP00000334497.5:p.Ile186Leu
NM_000218.2:c.937A>C , LRG_287t1:c.937A>C	NP_000209.2:p.Ile313Leu
NM_181798.1:c.556A>C , LRG_287t2:c.556A>C	NP_861463.1:p.Ile186Leu
NM_000218.3:c.937A>C MANE Select	NP_000209.2:p.Ile313Leu