Canonical Allele Identifier: CA1074912589
Gene: C1QTNF3-AMACR HGNC NCBI

Linked Data

gnomAD v3: 5-34008136-A-C
gnomAD v4: 5-34008136-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008136A>C , CM000667.2:g.34008136A>C GRCh38
NC_000005.9:g.34008241A>C , CM000667.1:g.34008241A>C GRCh37
NC_000005.8:g.34043998A>C NCBI36
NG_016211.1:g.4980T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382079.3:c.690-2237T>G ENSP00000371511.3:n.690-2237T>G
NR_037951.1:n.765-2237T>G
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