Canonical Allele Identifier: CA2695213151

Gene: KCNQ1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572086_2572087delinsAA , CM000673.2:g.2572086_2572087delinsAA	GRCh38
NC_000011.9:g.2593316_2593317delinsAA , CM000673.1:g.2593316_2593317delinsAA	GRCh37
NC_000011.8:g.2549892_2549893delinsAA	NCBI36
NG_008935.1:g.132096_132097delinsAA , LRG_287:g.132096_132097delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.496_497delinsAA	ENSP00000434560.2:p.Ser166Asn
ENST00000646564.2:c.478-11349_478-11348delinsAA	ENSP00000495806.2:n.478-11349_478-11348delinsAA
ENST00000155840.12:c.757_758delinsAA MANE Select	ENSP00000155840.2:p.Ser253Asn
ENST00000335475.6:c.376_377delinsAA	ENSP00000334497.5:p.Ser126Asn
ENST00000646564.1:c.124-11349_124-11348delinsAA	ENSP00000495806.1:n.124-11349_124-11348delinsAA
ENST00000155840.9:c.757_758delinsAA	ENSP00000155840.2:p.Ser253Asn
ENST00000335475.5:c.376_377delinsAA	ENSP00000334497.5:p.Ser126Asn
ENST00000496887.6:c.496_497delinsAA	ENSP00000434560.1:p.Ser166Asn
NM_000218.2:c.757_758delinsAA , LRG_287t1:c.757_758delinsAA	NP_000209.2:p.Ser253Asn
NM_181798.1:c.376_377delinsAA , LRG_287t2:c.376_377delinsAA	NP_861463.1:p.Ser126Asn
NM_000218.3:c.757_758delinsAA MANE Select	NP_000209.2:p.Ser253Asn