Canonical Allele Identifier: CA2645130517
Gene: KCNQ4 HGNC NCBI

Linked Data

gnomAD v4: 1-40783982-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40783982C>T , CM000663.2:g.40783982C>T GRCh38
NC_000001.10:g.41249654C>T , CM000663.1:g.41249654C>T GRCh37
NC_000001.9:g.41022241C>T NCBI36
NG_008139.1:g.4971C>T
NG_008139.2:g.4971C>T
NG_008139.3:g.5196C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000347132.10:c.-112C>T MANE Select ENSP00000262916.6:n.-112C>T
NM_004700.4:c.-112C>T MANE Select NP_004691.2:n.-112C>T
NM_172163.3:c.-112C>T NP_751895.1:n.-112C>T
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