Canonical Allele Identifier: CA034963

Gene: KCNQ1 KCNQ1-AS1

Linked Data

• ClinVar Variation Id: 304241
• ClinVar RCV Id: RCV000290594 ; RCV000296440 ; RCV000344423 ; RCV000347433 ; RCV000405723
• dbSNP Id: rs45570140
• ExAC: 11:2869538 A / C
• gnomAD v2: 11-2869538-A-C
• gnomAD v3: 11-2848308-A-C
• gnomAD v4: 11-2848308-A-C
• MyVariant Identifiers: chr11:g.2869538A>C (hg19) ; chr11:g.2848308A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2848308A>C , CM000673.2:g.2848308A>C	GRCh38
NC_000011.9:g.2869538A>C , CM000673.1:g.2869538A>C	GRCh37
NC_000011.8:g.2826114A>C	NCBI36
NG_008935.1:g.408318A>C , LRG_287:g.408318A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.*305A>C (KCNQ1)	ENSP00000434560.2:n.*305A>C
ENST00000155840.12:c.*305A>C (KCNQ1) MANE Select	ENSP00000155840.2:n.*305A>C
ENST00000335475.6:c.*305A>C (KCNQ1)	ENSP00000334497.5:n.*305A>C
ENST00000155840.9:c.*305A>C (KCNQ1)	ENSP00000155840.2:n.*305A>C
ENST00000526095.1:n.843A>C (KCNQ1)
NM_000218.2:c.*305A>C , LRG_287t1:c.*305A>C (KCNQ1)	NP_000209.2:n.*305A>C
NM_181798.1:c.*305A>C , LRG_287t2:c.*305A>C (KCNQ1)	NP_861463.1:n.*305A>C
NR_130721.1:n.778-7866T>G (KCNQ1-AS1)
NM_000218.3:c.*305A>C (KCNQ1) MANE Select	NP_000209.2:n.*305A>C