Canonical Allele Identifier: CA1948233599

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587690G= , CM000673.2:g.2587690G=	GRCh38
NC_000011.9:g.2608920G= , CM000673.1:g.2608920G=	GRCh37
NC_000011.8:g.2565496G=	NCBI36
NG_008935.1:g.147700G= , LRG_287:g.147700G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.1249G= MANE Select	NP_000209.2:p.Val417=
ENST00000155840.12:c.1249G= MANE Select	ENSP00000155840.2:p.Val417=
NM_000218.2:c.1249G= , LRG_287t1:c.1249G=	NP_000209.2:p.Val417=
NM_181798.1:c.868G= , LRG_287t2:c.868G=	NP_861463.1:p.Val290=
ENST00000155840.9:c.1249G=	ENSP00000155840.2:p.Val417=
ENST00000335475.5:c.868G=	ENSP00000334497.5:p.Val290=
ENST00000335475.6:c.868G=	ENSP00000334497.5:p.Val290=
ENST00000496887.7:c.892G=	ENSP00000434560.2:p.Val298=
ENST00000646564.1:c.355G=	ENSP00000495806.1:p.Val119=
ENST00000646564.2:c.709G=	ENSP00000495806.2:p.Val237=