Canonical Allele Identifier: CA809989477
Gene: C1QTNF3-AMACR HGNC NCBI

Linked Data

dbSNP Id: rs1322790751
gnomAD v3: 5-34008175-A-G
gnomAD v4: 5-34008175-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008175A>G , CM000667.2:g.34008175A>G GRCh38
NC_000005.9:g.34008280A>G , CM000667.1:g.34008280A>G GRCh37
NC_000005.8:g.34044037A>G NCBI36
NG_016211.1:g.4941T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382079.3:c.690-2276T>C ENSP00000371511.3:n.690-2276T>C
NR_037951.1:n.765-2276T>C