Canonical Allele Identifier: CA034034
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2847942A>G
GRCh37 chr11:g.2869172A>G
Revel Score:
ENST00000155840 (MANE Select) 0.424
ENST00000335475 0.424
gnomAD v2:
11:2869172 A / G
gnomAD v3:
11:2847942 A / G
gnomAD v4:
chr11-2847942-A-G
Joint Max Group AF 0.00087054 (SAS)
Genomes Max Group AF 0.0004078 (SAS)
Exomes Max Group AF 0.00086635 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2847942A>G , CM000673.2:g.2847942A>G GRCh38
NC_000011.9:g.2869172A>G , CM000673.1:g.2869172A>G GRCh37
NC_000011.8:g.2825748A>G NCBI36
NG_008935.1:g.407952A>G , LRG_287:g.407952A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1613A>G (KCNQ1) ENSP00000434560.2:p.Asn538Ser
ENST00000155840.12:c.1970A>G (KCNQ1) MANE Select ENSP00000155840.2:p.Asn657Ser
ENST00000335475.6:c.1589A>G (KCNQ1) ENSP00000334497.5:p.Asn530Ser
ENST00000526095.2:c.374A>G (KCNQ1) ENSP00000494939.1:p.Asn125Ser
ENST00000155840.9:c.1970A>G (KCNQ1) ENSP00000155840.2:p.Asn657Ser
ENST00000335475.5:c.1589A>G (KCNQ1) ENSP00000334497.5:p.Asn530Ser
ENST00000526095.1:n.477A>G (KCNQ1)
NM_000218.2:c.1970A>G , LRG_287t1:c.1970A>G (KCNQ1) NP_000209.2:p.Asn657Ser
NM_181798.1:c.1589A>G , LRG_287t2:c.1589A>G (KCNQ1) NP_861463.1:p.Asn530Ser
NR_130721.1:n.778-7500T>C (KCNQ1-AS1)
NM_000218.3:c.1970A>G (KCNQ1) MANE Select NP_000209.2:p.Asn657Ser
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