Canonical Allele Identifier: CA1948196834

Gene: KCNQ1

Linked Data

• dbSNP Id: rs1847542574

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2528047dup , CM000673.2:g.2528047dup	GRCh38
NC_000011.9:g.2549277dup , CM000673.1:g.2549277dup	GRCh37
NC_000011.8:g.2505853dup	NCBI36
NG_008935.1:g.88057dup , LRG_287:g.88057dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.216+29dup	ENSP00000434560.2:n.216+29dup
ENST00000646564.2:c.477+29dup	ENSP00000495806.2:n.477+29dup
ENST00000155840.12:c.477+29dup MANE Select	ENSP00000155840.2:n.477+29dup
ENST00000335475.6:c.96+29dup	ENSP00000334497.5:n.96+29dup
ENST00000646564.1:c.123+29dup	ENSP00000495806.1:n.123+29dup
ENST00000155840.9:c.477+29dup	ENSP00000155840.2:n.477+29dup
ENST00000335475.5:c.96+29dup	ENSP00000334497.5:n.96+29dup
ENST00000496887.6:c.216+29dup	ENSP00000434560.1:n.216+29dup
NM_000218.2:c.477+29dup , LRG_287t1:c.477+29dup	NP_000209.2:n.477+29dup
NM_181798.1:c.96+29dup , LRG_287t2:c.96+29dup	NP_861463.1:n.96+29dup
NM_000218.3:c.477+29dup MANE Select	NP_000209.2:n.477+29dup