Canonical Allele Identifier: CA2261633993

Genomic Alleles

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

Transcript Alleles

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