Canonical Allele Identifier: CA626225712
Gene: C1QL1 HGNC NCBI
NMT1 HGNC NCBI

Linked Data

dbSNP Id: rs1189673180
gnomAD v2: 17-43037926-G-C
gnomAD v3: 17-44960558-G-C
gnomAD v4: 17-44960558-G-C
MyVariant Identifiers: chr17:g.43037926G>C (hg19) chr17:g.44960558G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44960558G>C , CM000679.2:g.44960558G>C GRCh38
NC_000017.10:g.43037926G>C , CM000679.1:g.43037926G>C GRCh37
NC_000017.9:g.40393452G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000253407.4:c.598-191C>G (C1QL1) MANE Select ENSP00000253407.2:n.598-191C>G
ENST00000678938.1:c.-110+2496G>C (NMT1) ENSP00000503621.1:n.-110+2496G>C
ENST00000253407.3:c.598-191C>G (C1QL1) ENSP00000253407.2:n.598-191C>G
NM_006688.4:c.598-191C>G (C1QL1) NP_006679.1:n.598-191C>G
NM_006688.5:c.598-191C>G (C1QL1) MANE Select NP_006679.1:n.598-191C>G
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