Canonical Allele Identifier: CA1074912625
Gene: C1QTNF3-AMACR HGNC NCBI

Linked Data

dbSNP Id: rs1754064695
gnomAD v3: 5-34008148-C-T
gnomAD v4: 5-34008148-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008148C>T , CM000667.2:g.34008148C>T GRCh38
NC_000005.9:g.34008253C>T , CM000667.1:g.34008253C>T GRCh37
NC_000005.8:g.34044010C>T NCBI36
NG_016211.1:g.4968G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000382079.3:c.690-2249G>A ENSP00000371511.3:n.690-2249G>A
NR_037951.1:n.765-2249G>A
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