Canonical Allele Identifier: CA2611999556
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1186019361
gnomAD v4: 11-2445023-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445023T>C , CM000673.2:g.2445023T>C GRCh38
NC_000011.9:g.2466253T>C , CM000673.1:g.2466253T>C GRCh37
NC_000011.8:g.2422829T>C NCBI36
NG_008935.1:g.5033T>C , LRG_287:g.5033T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+315T>C ENSP00000434560.2:n.23+315T>C
ENST00000646564.2:c.-76T>C ENSP00000495806.2:n.-76T>C
ENST00000155840.12:c.-76T>C MANE Select ENSP00000155840.2:n.-76T>C
ENST00000155840.9:c.-76T>C ENSP00000155840.2:n.-76T>C
ENST00000496887.6:c.23+315T>C ENSP00000434560.1:n.23+315T>C
NM_000218.2:c.-76T>C , LRG_287t1:c.-76T>C NP_000209.2:n.-76T>C
NM_000218.3:c.-76T>C MANE Select NP_000209.2:n.-76T>C
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