Canonical Allele Identifier: CA2261633920

Linked Data

dbSNP Id: rs2052623335

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.44960728G>C , CM000679.2:g.44960728G>C GRCh38
NC_000017.10:g.43038096G>C , CM000679.1:g.43038096G>C GRCh37
NC_000017.9:g.40393622G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000253407.4:c.598-361C>G (C1QL1) MANE Select ENSP00000253407.2:n.598-361C>G
ENST00000678938.1:c.-110+2666G>C (NMT1) ENSP00000503621.1:n.-110+2666G>C
ENST00000253407.3:c.598-361C>G (C1QL1) ENSP00000253407.2:n.598-361C>G
NM_006688.4:c.598-361C>G (C1QL1) NP_006679.1:n.598-361C>G
NM_006688.5:c.598-361C>G (C1QL1) MANE Select NP_006679.1:n.598-361C>G