Canonical Allele Identifier: CA507476
Gene: HES4 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.999691C>T
GRCh37 chr1:g.935071C>T
gnomAD v2:
1:935071 C / T
gnomAD v3:
1:999691 C / T
gnomAD v4:
chr1-999691-C-T
Joint Max Group AF 0.00019041 (SAS)
Genomes Max Group AF 0.00005841 (NFE)
Exomes Max Group AF 0.00019227 (SAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.999691C>T , CM000663.2:g.999691C>T GRCh38
NC_000001.10:g.935071C>T , CM000663.1:g.935071C>T GRCh37
NC_000001.9:g.924934C>T NCBI36
NG_033033.2:g.3554C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000304952.11:c.204+1G>A MANE Select ENSP00000304595.7:n.204+1G>A
ENST00000304952.10:c.204+1G>A ENSP00000304595.6:n.204+1G>A
ENST00000428771.6:c.282+1G>A ENSP00000393198.2:n.282+1G>A
ENST00000481869.1:n.406G>A
ENST00000484667.2:c.109-78G>A ENSP00000425085.1:n.109-78G>A
NM_001142467.1:c.282+1G>A NP_001135939.1:n.282+1G>A
NM_021170.3:c.204+1G>A NP_066993.1:n.204+1G>A
XM_005244771.3:c.109-78G>A XP_005244828.1:n.109-78G>A
XM_011541868.1:c.282+1G>A XP_011540170.1:n.282+1G>A
XM_005244771.4:c.109-78G>A XP_005244828.1:n.109-78G>A
NM_001142467.2:c.282+1G>A NP_001135939.1:n.282+1G>A
NM_021170.4:c.204+1G>A MANE Select NP_066993.1:n.204+1G>A
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