Canonical Allele Identifier: CA116873342
Gene: C1QTNF3-AMACR HGNC NCBI

Linked Data

dbSNP Id: rs185458554
gnomAD v2: 5-34008248-C-T
gnomAD v3: 5-34008143-C-T
gnomAD v4: 5-34008143-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008143C>T , CM000667.2:g.34008143C>T GRCh38
NC_000005.9:g.34008248C>T , CM000667.1:g.34008248C>T GRCh37
NC_000005.8:g.34044005C>T NCBI36
NG_016211.1:g.4973G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382079.3:c.690-2244G>A ENSP00000371511.3:n.690-2244G>A
NR_037951.1:n.765-2244G>A