Canonical Allele Identifier: CA472038030

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2571395G>C , CM000673.2:g.2571395G>C	GRCh38
NC_000011.9:g.2592625G>C , CM000673.1:g.2592625G>C	GRCh37
NC_000011.8:g.2549201G>C	NCBI36
NG_008935.1:g.131405G>C , LRG_287:g.131405G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.675G>C MANE Select	NP_000209.2:p.Ser225=
ENST00000155840.12:c.675G>C MANE Select	ENSP00000155840.2:p.Ser225=
NM_000218.2:c.675G>C , LRG_287t1:c.675G>C	NP_000209.2:p.Ser225=
NM_181798.1:c.294G>C , LRG_287t2:c.294G>C	NP_861463.1:p.Ser98=
ENST00000155840.9:c.675G>C	ENSP00000155840.2:p.Ser225=
ENST00000335475.5:c.294G>C	ENSP00000334497.5:p.Ser98=
ENST00000335475.6:c.294G>C	ENSP00000334497.5:p.Ser98=
ENST00000496887.6:c.414G>C	ENSP00000434560.1:p.Ser138=
ENST00000496887.7:c.414G>C	ENSP00000434560.2:p.Ser138=
ENST00000646564.1:c.124-12040G>C	ENSP00000495806.1:n.124-12040G>C
ENST00000646564.2:c.478-12040G>C	ENSP00000495806.2:n.478-12040G>C