Canonical Allele Identifier: CA379129883

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570677G>C , CM000673.2:g.2570677G>C	GRCh38
NC_000011.9:g.2591907G>C , CM000673.1:g.2591907G>C	GRCh37
NC_000011.8:g.2548483G>C	NCBI36
NG_008935.1:g.130687G>C , LRG_287:g.130687G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.527G>C MANE Select	NP_000209.2:p.Trp176Ser
ENST00000155840.12:c.527G>C MANE Select	ENSP00000155840.2:p.Trp176Ser
NM_000218.2:c.527G>C , LRG_287t1:c.527G>C	NP_000209.2:p.Trp176Ser
NM_181798.1:c.146G>C , LRG_287t2:c.146G>C	NP_861463.1:p.Trp49Ser
ENST00000155840.9:c.527G>C	ENSP00000155840.2:p.Trp176Ser
ENST00000335475.5:c.146G>C	ENSP00000334497.5:p.Trp49Ser
ENST00000335475.6:c.146G>C	ENSP00000334497.5:p.Trp49Ser
ENST00000496887.6:c.266G>C	ENSP00000434560.1:p.Trp89Ser
ENST00000496887.7:c.266G>C	ENSP00000434560.2:p.Trp89Ser
ENST00000646564.1:c.124-12758G>C	ENSP00000495806.1:n.124-12758G>C
ENST00000646564.2:c.478-12758G>C	ENSP00000495806.2:n.478-12758G>C