Canonical Allele Identifier: CA379131479

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572904T>C , CM000673.2:g.2572904T>C	GRCh38
NC_000011.9:g.2594134T>C , CM000673.1:g.2594134T>C	GRCh37
NC_000011.8:g.2550710T>C	NCBI36
NG_008935.1:g.132914T>C , LRG_287:g.132914T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.839T>C MANE Select	NP_000209.2:p.Val280Ala
ENST00000155840.12:c.839T>C MANE Select	ENSP00000155840.2:p.Val280Ala
NM_000218.2:c.839T>C , LRG_287t1:c.839T>C	NP_000209.2:p.Val280Ala
NM_181798.1:c.458T>C , LRG_287t2:c.458T>C	NP_861463.1:p.Val153Ala
ENST00000155840.9:c.839T>C	ENSP00000155840.2:p.Val280Ala
ENST00000335475.5:c.458T>C	ENSP00000334497.5:p.Val153Ala
ENST00000335475.6:c.458T>C	ENSP00000334497.5:p.Val153Ala
ENST00000496887.6:c.578T>C	ENSP00000434560.1:p.Val193Ala
ENST00000496887.7:c.578T>C	ENSP00000434560.2:p.Val193Ala
ENST00000646564.1:c.124-10531T>C	ENSP00000495806.1:n.124-10531T>C
ENST00000646564.2:c.478-10531T>C	ENSP00000495806.2:n.478-10531T>C