Canonical Allele Identifier: CA116873421
Gene: C1QTNF3-AMACR HGNC NCBI

Linked Data

ClinVar Variation Id: 1296470
ClinVar RCV Id: RCV001719688
dbSNP Id: rs78830283
gnomAD v2: 5-34008276-C-A
gnomAD v3: 5-34008171-C-A
gnomAD v4: 5-34008171-C-A
MyVariant Identifiers: chr5:g.34008276C>A (hg19) chr5:g.34008171C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008171C>A , CM000667.2:g.34008171C>A GRCh38
NC_000005.9:g.34008276C>A , CM000667.1:g.34008276C>A GRCh37
NC_000005.8:g.34044033C>A NCBI36
NG_016211.1:g.4945G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000382079.3:c.690-2272G>T ENSP00000371511.3:n.690-2272G>T
NR_037951.1:n.765-2272G>T
Search 100 bp 5'
Search 100 bp 3'