Canonical Allele Identifier: CA14435778
Gene: C1QL1 HGNC NCBI
NMT1 HGNC NCBI
dbSNP:
1007190
gnomAD v2:
17:43038209 C / T
gnomAD v3:
17:44960841 C / T
gnomAD v4:
chr17-44960841-C-T
Joint Max Group AF 0.18119073 (EAS)
Genomes Max Group AF 0.18119073 (EAS)
MyVariant.info:
GRCh38 chr17:g.44960841C>T
GRCh37 chr17:g.43038209C>T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44960841C>T , CM000679.2:g.44960841C>T GRCh38
NC_000017.10:g.43038209C>T , CM000679.1:g.43038209C>T GRCh37
NC_000017.9:g.40393735C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000253407.4:c.598-474G>A (C1QL1) MANE Select ENSP00000253407.2:n.598-474G>A
ENST00000678938.1:c.-110+2779C>T (NMT1) ENSP00000503621.1:n.-110+2779C>T
ENST00000253407.3:c.598-474G>A (C1QL1) ENSP00000253407.2:n.598-474G>A
NM_006688.4:c.598-474G>A (C1QL1) NP_006679.1:n.598-474G>A
NM_006688.5:c.598-474G>A (C1QL1) MANE Select NP_006679.1:n.598-474G>A
Search 100 bp 5'
Search 100 bp 3'