Canonical Allele Identifier: CA1074912599
Gene: C1QTNF3-AMACR HGNC NCBI

Linked Data

gnomAD v3: 5-34008138-A-C
gnomAD v4: 5-34008138-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008138A>C , CM000667.2:g.34008138A>C GRCh38
NC_000005.9:g.34008243A>C , CM000667.1:g.34008243A>C GRCh37
NC_000005.8:g.34044000A>C NCBI36
NG_016211.1:g.4978T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382079.3:c.690-2239T>G ENSP00000371511.3:n.690-2239T>G
NR_037951.1:n.765-2239T>G