Canonical Allele Identifier: CA772314196
Gene: C1QL1 HGNC NCBI
NMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1435494551
gnomAD v4: 17-44960483-C-T
MyVariant Identifiers: chr17:g.43037851C>T (hg19) chr17:g.44960483C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44960483C>T , CM000679.2:g.44960483C>T GRCh38
NC_000017.10:g.43037851C>T , CM000679.1:g.43037851C>T GRCh37
NC_000017.9:g.40393377C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000253407.4:c.598-116G>A (C1QL1) MANE Select ENSP00000253407.2:n.598-116G>A
ENST00000678938.1:c.-110+2421C>T (NMT1) ENSP00000503621.1:n.-110+2421C>T
ENST00000253407.3:c.598-116G>A (C1QL1) ENSP00000253407.2:n.598-116G>A
NM_006688.4:c.598-116G>A (C1QL1) NP_006679.1:n.598-116G>A
NM_006688.5:c.598-116G>A (C1QL1) MANE Select NP_006679.1:n.598-116G>A
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