Canonical Allele Identifier: CA2840405432

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2573000T>C , CM000673.2:g.2573000T>C	GRCh38
NC_000011.9:g.2594230T>C , CM000673.1:g.2594230T>C	GRCh37
NC_000011.8:g.2550806T>C	NCBI36
NG_008935.1:g.133010T>C , LRG_287:g.133010T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.660+14T>C	ENSP00000434560.2:n.660+14T>C
ENST00000646564.2:c.478-10435T>C	ENSP00000495806.2:n.478-10435T>C
ENST00000155840.12:c.921+14T>C MANE Select	ENSP00000155840.2:n.921+14T>C
ENST00000335475.6:c.540+14T>C	ENSP00000334497.5:n.540+14T>C
ENST00000646564.1:c.124-10435T>C	ENSP00000495806.1:n.124-10435T>C
ENST00000155840.9:c.921+14T>C	ENSP00000155840.2:n.921+14T>C
ENST00000335475.5:c.540+14T>C	ENSP00000334497.5:n.540+14T>C
NM_000218.2:c.921+14T>C , LRG_287t1:c.921+14T>C	NP_000209.2:n.921+14T>C
NM_181798.1:c.540+14T>C , LRG_287t2:c.540+14T>C	NP_861463.1:n.540+14T>C
NM_000218.3:c.921+14T>C MANE Select	NP_000209.2:n.921+14T>C