Canonical Allele Identifier: CA1948349611

Gene: KCNQ1 KCNQ1-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847821C= , CM000673.2:g.2847821C=	GRCh38
NC_000011.9:g.2869051C= , CM000673.1:g.2869051C=	GRCh37
NC_000011.8:g.2825627C=	NCBI36
NG_008935.1:g.407831C= , LRG_287:g.407831C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1492C= (KCNQ1)	ENSP00000434560.2:p.Leu498=
ENST00000155840.12:c.1849C= (KCNQ1) MANE Select	ENSP00000155840.2:p.Leu617=
ENST00000335475.6:c.1468C= (KCNQ1)	ENSP00000334497.5:p.Leu490=
ENST00000526095.2:c.253C= (KCNQ1)	ENSP00000494939.1:p.Leu85=
ENST00000155840.9:c.1849C= (KCNQ1)	ENSP00000155840.2:p.Leu617=
ENST00000335475.5:c.1468C= (KCNQ1)	ENSP00000334497.5:p.Leu490=
ENST00000526095.1:n.356C= (KCNQ1)
NM_000218.2:c.1849C= , LRG_287t1:c.1849C= (KCNQ1)	NP_000209.2:p.Leu617=
NM_181798.1:c.1468C= , LRG_287t2:c.1468C= (KCNQ1)	NP_861463.1:p.Leu490=
NR_130721.1:n.778-7379G= (KCNQ1-AS1)
NM_000218.3:c.1849C= (KCNQ1) MANE Select	NP_000209.2:p.Leu617=