Canonical Allele Identifier: CA1074912630
Gene: C1QTNF3-AMACR HGNC NCBI

Linked Data

dbSNP Id: rs543230026
gnomAD v3: 5-34008150-C-G
gnomAD v4: 5-34008150-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008150C>G , CM000667.2:g.34008150C>G GRCh38
NC_000005.9:g.34008255C>G , CM000667.1:g.34008255C>G GRCh37
NC_000005.8:g.34044012C>G NCBI36
NG_016211.1:g.4966G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000382079.3:c.690-2251G>C ENSP00000371511.3:n.690-2251G>C
NR_037951.1:n.765-2251G>C
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