Canonical Allele Identifier: CA116873310
Gene: C1QTNF3-AMACR HGNC NCBI

Linked Data

dbSNP Id: rs1021587267
gnomAD v3: 5-34008121-G-C
gnomAD v4: 5-34008121-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008121G>C , CM000667.2:g.34008121G>C GRCh38
NC_000005.9:g.34008226G>C , CM000667.1:g.34008226G>C GRCh37
NC_000005.8:g.34043983G>C NCBI36
NG_016211.1:g.4995C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382079.3:c.690-2222C>G ENSP00000371511.3:n.690-2222C>G
NR_037951.1:n.765-2222C>G