Canonical Allele Identifier: CA291018591
Gene: C1QL1 HGNC NCBI
NMT1 HGNC NCBI

Linked Data

dbSNP Id: rs535100795
gnomAD v2: 17-43038039-A-G
gnomAD v3: 17-44960671-A-G
gnomAD v4: 17-44960671-A-G
MyVariant Identifiers: chr17:g.43038039A>G (hg19) chr17:g.44960671A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44960671A>G , CM000679.2:g.44960671A>G GRCh38
NC_000017.10:g.43038039A>G , CM000679.1:g.43038039A>G GRCh37
NC_000017.9:g.40393565A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000253407.4:c.598-304T>C (C1QL1) MANE Select ENSP00000253407.2:n.598-304T>C
ENST00000678938.1:c.-110+2609A>G (NMT1) ENSP00000503621.1:n.-110+2609A>G
ENST00000253407.3:c.598-304T>C (C1QL1) ENSP00000253407.2:n.598-304T>C
NM_006688.4:c.598-304T>C (C1QL1) NP_006679.1:n.598-304T>C
NM_006688.5:c.598-304T>C (C1QL1) MANE Select NP_006679.1:n.598-304T>C
Search 100 bp 5'
Search 100 bp 3'