Canonical Allele Identifier: CA913187660

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• ClinVar Variation Id: 666844
• ClinVar RCV Id: RCV000825356
• dbSNP Id: rs1590130358

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847895del , CM000673.2:g.2847895del	GRCh38
NC_000011.9:g.2869125del , CM000673.1:g.2869125del	GRCh37
NC_000011.8:g.2825701del	NCBI36
NG_008935.1:g.407905del , LRG_287:g.407905del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1566del (KCNQ1)	ENSP00000434560.2:p.Cys523AlafsTer24
ENST00000155840.12:c.1923del (KCNQ1) MANE Select	ENSP00000155840.2:p.Cys642AlafsTer24
ENST00000335475.6:c.1542del (KCNQ1)	ENSP00000334497.5:p.Cys515AlafsTer24
ENST00000526095.2:c.327del (KCNQ1)	ENSP00000494939.1:p.Cys110AlafsTer24
ENST00000155840.9:c.1923del (KCNQ1)	ENSP00000155840.2:p.Cys642AlafsTer24
ENST00000335475.5:c.1542del (KCNQ1)	ENSP00000334497.5:p.Cys515AlafsTer24
ENST00000526095.1:n.430del (KCNQ1)
NM_000218.2:c.1923del , LRG_287t1:c.1923del (KCNQ1)	NP_000209.2:p.Cys642AlafsTer24
NM_181798.1:c.1542del , LRG_287t2:c.1542del (KCNQ1)	NP_861463.1:p.Cys515AlafsTer24
NR_130721.1:n.778-7451del (KCNQ1-AS1)
NM_000218.3:c.1923del (KCNQ1) MANE Select	NP_000209.2:p.Cys642AlafsTer24