Canonical Allele Identifier: CA291018672

Gene: C1QL1 NMT1

Linked Data

• dbSNP Id: rs370478066
• gnomAD v2: 17-43038172-C-T
• gnomAD v3: 17-44960804-C-T
• gnomAD v4: 17-44960804-C-T
• MyVariant Identifiers: chr17:g.43038172C>T (hg19) ; chr17:g.44960804C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.44960804C>T , CM000679.2:g.44960804C>T	GRCh38
NC_000017.10:g.43038172C>T , CM000679.1:g.43038172C>T	GRCh37
NC_000017.9:g.40393698C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253407.4:c.598-437G>A (C1QL1) MANE Select	ENSP00000253407.2:n.598-437G>A
ENST00000678938.1:c.-110+2742C>T (NMT1)	ENSP00000503621.1:n.-110+2742C>T
ENST00000253407.3:c.598-437G>A (C1QL1)	ENSP00000253407.2:n.598-437G>A
NM_006688.4:c.598-437G>A (C1QL1)	NP_006679.1:n.598-437G>A
NM_006688.5:c.598-437G>A (C1QL1) MANE Select	NP_006679.1:n.598-437G>A