Canonical Allele Identifier: CA1139661766

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• ClinVar Variation Id: 928774
• ClinVar RCV Id: RCV001212928 ; RCV001751353 ; RCV001841181
• dbSNP Id: rs1848361555

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847782dup , CM000673.2:g.2847782dup	GRCh38
NC_000011.9:g.2869012dup , CM000673.1:g.2869012dup	GRCh37
NC_000011.8:g.2825588dup	NCBI36
NG_008935.1:g.407792dup , LRG_287:g.407792dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.1453dup (KCNQ1)	ENSP00000434560.2:p.Gln485ProfsTer?
ENST00000155840.12:c.1810dup (KCNQ1) MANE Select	ENSP00000155840.2:p.Gln604ProfsTer?
ENST00000335475.6:c.1429dup (KCNQ1)	ENSP00000334497.5:p.Gln477ProfsTer?
ENST00000526095.2:c.214dup (KCNQ1)	ENSP00000494939.1:p.Gln72ProfsTer?
ENST00000155840.9:c.1810dup (KCNQ1)	ENSP00000155840.2:p.Gln604ProfsTer?
ENST00000335475.5:c.1429dup (KCNQ1)	ENSP00000334497.5:p.Gln477ProfsTer?
ENST00000526095.1:n.317dup (KCNQ1)
NM_000218.2:c.1810dup , LRG_287t1:c.1810dup (KCNQ1)	NP_000209.2:p.Gln604ProfsTer?
NM_181798.1:c.1429dup , LRG_287t2:c.1429dup (KCNQ1)	NP_861463.1:p.Gln477ProfsTer?
NR_130721.1:n.778-7339dup (KCNQ1-AS1)
NM_000218.3:c.1810dup (KCNQ1) MANE Select	NP_000209.2:p.Gln604ProfsTer?