Canonical Allele Identifier: CA2840840820

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776061A>T , CM000673.2:g.2776061A>T	GRCh38
NC_000011.9:g.2797291A>T , CM000673.1:g.2797291A>T	GRCh37
NC_000011.8:g.2753867A>T	NCBI36
NG_008935.1:g.336071A>T , LRG_287:g.336071A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1328+7A>T	ENSP00000434560.2:n.1328+7A>T
ENST00000646564.2:c.1145+7A>T	ENSP00000495806.2:n.1145+7A>T
ENST00000155840.12:c.1685+7A>T MANE Select	ENSP00000155840.2:n.1685+7A>T
ENST00000335475.6:c.1304+7A>T	ENSP00000334497.5:n.1304+7A>T
ENST00000646564.1:c.791+7A>T	ENSP00000495806.1:n.791+7A>T
ENST00000155840.9:c.1685+7A>T	ENSP00000155840.2:n.1685+7A>T
ENST00000335475.5:c.1304+7A>T	ENSP00000334497.5:n.1304+7A>T
NM_000218.2:c.1685+7A>T , LRG_287t1:c.1685+7A>T	NP_000209.2:n.1685+7A>T
NM_181798.1:c.1304+7A>T , LRG_287t2:c.1304+7A>T	NP_861463.1:n.1304+7A>T
NM_000218.3:c.1685+7A>T MANE Select	NP_000209.2:n.1685+7A>T