Canonical Allele Identifier: CA809989489
Gene: C1QTNF3-AMACR HGNC NCBI

Linked Data

dbSNP Id: rs1459785633
gnomAD v3: 5-34008185-G-A
gnomAD v4: 5-34008185-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008185G>A , CM000667.2:g.34008185G>A GRCh38
NC_000005.9:g.34008290G>A , CM000667.1:g.34008290G>A GRCh37
NC_000005.8:g.34044047G>A NCBI36
NG_016211.1:g.4931C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382079.3:c.690-2286C>T ENSP00000371511.3:n.690-2286C>T
NR_037951.1:n.765-2286C>T