Canonical Allele Identifier: CA626149384

Gene: C1QL1 NMT1

Linked Data

• dbSNP Id: rs1400789567
• gnomAD v2: 17-43038214-T-C
• gnomAD v3: 17-44960846-T-C
• gnomAD v4: 17-44960846-T-C
• MyVariant Identifiers: chr17:g.43038214T>C (hg19) ; chr17:g.44960846T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44960846T>C , CM000679.2:g.44960846T>C	GRCh38
NC_000017.10:g.43038214T>C , CM000679.1:g.43038214T>C	GRCh37
NC_000017.9:g.40393740T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253407.4:c.598-479A>G (C1QL1) MANE Select	ENSP00000253407.2:n.598-479A>G
ENST00000678938.1:c.-110+2784T>C (NMT1)	ENSP00000503621.1:n.-110+2784T>C
ENST00000253407.3:c.598-479A>G (C1QL1)	ENSP00000253407.2:n.598-479A>G
NM_006688.4:c.598-479A>G (C1QL1)	NP_006679.1:n.598-479A>G
NM_006688.5:c.598-479A>G (C1QL1) MANE Select	NP_006679.1:n.598-479A>G