Canonical Allele Identifier: CA2638275924
Gene: C1QL1 HGNC NCBI
NMT1 HGNC NCBI

Linked Data

gnomAD v4: 17-44960487-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44960487T>A , CM000679.2:g.44960487T>A GRCh38
NC_000017.10:g.43037855T>A , CM000679.1:g.43037855T>A GRCh37
NC_000017.9:g.40393381T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000253407.4:c.598-120A>T (C1QL1) MANE Select ENSP00000253407.2:n.598-120A>T
ENST00000678938.1:c.-110+2425T>A (NMT1) ENSP00000503621.1:n.-110+2425T>A
ENST00000253407.3:c.598-120A>T (C1QL1) ENSP00000253407.2:n.598-120A>T
NM_006688.4:c.598-120A>T (C1QL1) NP_006679.1:n.598-120A>T
NM_006688.5:c.598-120A>T (C1QL1) MANE Select NP_006679.1:n.598-120A>T
Search 100 bp 5'
Search 100 bp 3'