Canonical Allele Identifier: CA1074912596
Gene: C1QTNF3-AMACR HGNC NCBI

Linked Data

dbSNP Id: rs1754064194
gnomAD v3: 5-34008138-A-G
gnomAD v4: 5-34008138-A-G
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Genomic Alleles

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

Transcript Alleles

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