Canonical Allele Identifier: CA522803429
Gene: KCNQ4 HGNC NCBI

Linked Data

dbSNP Id: rs1490534251
gnomAD v2: 1-41249603-G-GCGCC
gnomAD v3: 1-40783931-G-GCGCC
gnomAD v4: 1-40783931-G-GCGCC
MyVariant Identifiers: chr1:g.41249603_41249604insCGCC (hg19) chr1:g.40783931_40783932insCGCC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40783939_40783942dup , CM000663.2:g.40783939_40783942dup GRCh38
NC_000001.10:g.41249611_41249614dup , CM000663.1:g.41249611_41249614dup GRCh37
NC_000001.9:g.41022198_41022201dup NCBI36
NG_008139.1:g.4928_4931dup
NG_008139.2:g.4928_4931dup
NG_008139.3:g.5153_5156dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.-155_-152dup MANE Select ENSP00000262916.6:n.-155_-152dup
NM_004700.4:c.-155_-152dup MANE Select NP_004691.2:n.-155_-152dup
NM_172163.3:c.-155_-152dup NP_751895.1:n.-155_-152dup
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