Canonical Allele Identifier: CA006975

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527935A>C , CM000673.2:g.2527935A>C	GRCh38
NC_000011.9:g.2549165A>C , CM000673.1:g.2549165A>C	GRCh37
NC_000011.8:g.2505741A>C	NCBI36
NG_008935.1:g.87945A>C , LRG_287:g.87945A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000218.3:c.394A>C MANE Select	NP_000209.2:p.Ile132Leu
ENST00000155840.12:c.394A>C MANE Select	ENSP00000155840.2:p.Ile132Leu
NM_000218.2:c.394A>C , LRG_287t1:c.394A>C	NP_000209.2:p.Ile132Leu
NM_181798.1:c.13A>C , LRG_287t2:c.13A>C	NP_861463.1:p.Ile5Leu
ENST00000155840.9:c.394A>C	ENSP00000155840.2:p.Ile132Leu
ENST00000335475.5:c.13A>C	ENSP00000334497.5:p.Ile5Leu
ENST00000335475.6:c.13A>C	ENSP00000334497.5:p.Ile5Leu
ENST00000345015.4:n.263A>C
ENST00000380776.4:c.184A>C	ENSP00000370153.4:p.Ile62Leu
ENST00000380776.5:n.191A>C
ENST00000496887.6:c.133A>C	ENSP00000434560.1:p.Ile45Leu
ENST00000496887.7:c.133A>C	ENSP00000434560.2:p.Ile45Leu
ENST00000646564.1:c.40A>C	ENSP00000495806.1:p.Ile14Leu
ENST00000646564.2:c.394A>C	ENSP00000495806.2:p.Ile132Leu