Canonical Allele Identifier: CA1948236345

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1848632764

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588843dup , CM000673.2:g.2588843dup	GRCh38
NC_000011.9:g.2610073dup , CM000673.1:g.2610073dup	GRCh37
NC_000011.8:g.2566649dup	NCBI36
NG_008935.1:g.148853dup , LRG_287:g.148853dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1025dup	ENSP00000434560.2:p.Tyr342Ter
ENST00000646564.2:c.842dup	ENSP00000495806.2:p.Tyr281Ter
ENST00000155840.12:c.1382dup MANE Select	ENSP00000155840.2:p.Tyr461Ter
ENST00000335475.6:c.1001dup	ENSP00000334497.5:p.Tyr334Ter
ENST00000646564.1:c.488dup	ENSP00000495806.1:p.Tyr163Ter
ENST00000155840.9:c.1382dup	ENSP00000155840.2:p.Tyr461Ter
ENST00000335475.5:c.1001dup	ENSP00000334497.5:p.Tyr334Ter
NM_000218.2:c.1382dup , LRG_287t1:c.1382dup	NP_000209.2:p.Tyr461Ter
NM_181798.1:c.1001dup , LRG_287t2:c.1001dup	NP_861463.1:p.Tyr334Ter
NM_000218.3:c.1382dup MANE Select	NP_000209.2:p.Tyr461Ter