Canonical Allele Identifier: CA1538249920
Gene: C1QTNF3-AMACR HGNC NCBI

Linked Data

dbSNP Id: rs1754063253
gnomAD v4: 5-34008118-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008118G>A , CM000667.2:g.34008118G>A GRCh38
NC_000005.9:g.34008223G>A , CM000667.1:g.34008223G>A GRCh37
NC_000005.8:g.34043980G>A NCBI36
NG_016211.1:g.4998C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382079.3:c.690-2219C>T ENSP00000371511.3:n.690-2219C>T
NR_037951.1:n.765-2219C>T
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