Canonical Allele Identifier: CA984036859

Gene: C1QL1 NMT1

Linked Data

• dbSNP Id: rs2043068663
• gnomAD v3: 17-44960765-C-G
• gnomAD v4: 17-44960765-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44960765C>G , CM000679.2:g.44960765C>G	GRCh38
NC_000017.10:g.43038133C>G , CM000679.1:g.43038133C>G	GRCh37
NC_000017.9:g.40393659C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253407.4:c.598-398G>C (C1QL1) MANE Select	ENSP00000253407.2:n.598-398G>C
ENST00000678938.1:c.-110+2703C>G (NMT1)	ENSP00000503621.1:n.-110+2703C>G
ENST00000253407.3:c.598-398G>C (C1QL1)	ENSP00000253407.2:n.598-398G>C
NM_006688.4:c.598-398G>C (C1QL1)	NP_006679.1:n.598-398G>C
NM_006688.5:c.598-398G>C (C1QL1) MANE Select	NP_006679.1:n.598-398G>C