Canonical Allele Identifier: CA379139740

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778014C>A , CM000673.2:g.2778014C>A	GRCh38
NC_000011.9:g.2799244C>A , CM000673.1:g.2799244C>A	GRCh37
NC_000011.8:g.2755820C>A	NCBI36
NG_008935.1:g.338024C>A , LRG_287:g.338024C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1771C>A MANE Select	NP_000209.2:p.Arg591Ser
ENST00000155840.12:c.1771C>A MANE Select	ENSP00000155840.2:p.Arg591Ser
NM_000218.2:c.1771C>A , LRG_287t1:c.1771C>A	NP_000209.2:p.Arg591Ser
NM_181798.1:c.1390C>A , LRG_287t2:c.1390C>A	NP_861463.1:p.Arg464Ser
ENST00000155840.9:c.1771C>A	ENSP00000155840.2:p.Arg591Ser
ENST00000335475.5:c.1390C>A	ENSP00000334497.5:p.Arg464Ser
ENST00000335475.6:c.1390C>A	ENSP00000334497.5:p.Arg464Ser
ENST00000496887.7:c.1414C>A	ENSP00000434560.2:p.Arg472Ser
ENST00000526095.1:n.278C>A
ENST00000526095.2:c.175C>A	ENSP00000494939.1:p.Arg59Ser
ENST00000646564.1:c.877C>A	ENSP00000495806.1:p.Arg293Ser
ENST00000646564.2:c.1231C>A	ENSP00000495806.2:p.Arg411Ser