Canonical Allele Identifier: CA1948350192
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1848398048
gnomAD v4: 11-2848831-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848831A>G , CM000673.2:g.2848831A>G GRCh38
NC_000011.9:g.2870061A>G , CM000673.1:g.2870061A>G GRCh37
NC_000011.8:g.2826637A>G NCBI36
NG_008935.1:g.408841A>G , LRG_287:g.408841A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.*828A>G (KCNQ1) ENSP00000434560.2:n.*828A>G
ENST00000155840.12:c.*828A>G (KCNQ1) MANE Select ENSP00000155840.2:n.*828A>G
ENST00000335475.6:c.*828A>G (KCNQ1) ENSP00000334497.5:n.*828A>G
ENST00000155840.9:c.*828A>G (KCNQ1) ENSP00000155840.2:n.*828A>G
NM_000218.2:c.*828A>G , LRG_287t1:c.*828A>G (KCNQ1) NP_000209.2:n.*828A>G
NM_181798.1:c.*828A>G , LRG_287t2:c.*828A>G (KCNQ1) NP_861463.1:n.*828A>G
NR_130721.1:n.778-8389T>C (KCNQ1-AS1)
NM_000218.3:c.*828A>G (KCNQ1) MANE Select NP_000209.2:n.*828A>G
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