Canonical Allele Identifier: CA658761312

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• dbSNP Id: rs1348104676
• gnomAD v3: 11-2847878-GC-G
• gnomAD v4: 11-2847878-GC-G
• MyVariant Identifiers: chr11:g.2869109del (hg19) ; chr11:g.2847879del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2847881del , CM000673.2:g.2847881del	GRCh38
NC_000011.9:g.2869111del , CM000673.1:g.2869111del	GRCh37
NC_000011.8:g.2825687del	NCBI36
NG_008935.1:g.407891del , LRG_287:g.407891del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1552del (KCNQ1)	ENSP00000434560.2:p.His518ThrfsTer29
ENST00000155840.12:c.1909del (KCNQ1) MANE Select	ENSP00000155840.2:p.His637ThrfsTer29
ENST00000335475.6:c.1528del (KCNQ1)	ENSP00000334497.5:p.His510ThrfsTer29
ENST00000526095.2:c.313del (KCNQ1)	ENSP00000494939.1:p.His105ThrfsTer29
ENST00000155840.9:c.1909del (KCNQ1)	ENSP00000155840.2:p.His637ThrfsTer29
ENST00000335475.5:c.1528del (KCNQ1)	ENSP00000334497.5:p.His510ThrfsTer29
ENST00000526095.1:n.416del (KCNQ1)
NM_000218.2:c.1909del , LRG_287t1:c.1909del (KCNQ1)	NP_000209.2:p.His637ThrfsTer29
NM_181798.1:c.1528del , LRG_287t2:c.1528del (KCNQ1)	NP_861463.1:p.His510ThrfsTer29
NR_130721.1:n.778-7437del (KCNQ1-AS1)
NM_000218.3:c.1909del (KCNQ1) MANE Select	NP_000209.2:p.His637ThrfsTer29