Canonical Allele Identifier: CA1074912627
Gene: C1QTNF3-AMACR HGNC NCBI

Linked Data

dbSNP Id: rs1754064780
gnomAD v3: 5-34008149-C-G
gnomAD v4: 5-34008149-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008149C>G , CM000667.2:g.34008149C>G GRCh38
NC_000005.9:g.34008254C>G , CM000667.1:g.34008254C>G GRCh37
NC_000005.8:g.34044011C>G NCBI36
NG_016211.1:g.4967G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382079.3:c.690-2250G>C ENSP00000371511.3:n.690-2250G>C
NR_037951.1:n.765-2250G>C
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