Canonical Allele Identifier: CA1538249960
Gene: C1QTNF3-AMACR HGNC NCBI

Linked Data

dbSNP Id: rs1754064426
gnomAD v4: 5-34008145-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008145A>C , CM000667.2:g.34008145A>C GRCh38
NC_000005.9:g.34008250A>C , CM000667.1:g.34008250A>C GRCh37
NC_000005.8:g.34044007A>C NCBI36
NG_016211.1:g.4971T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000382079.3:c.690-2246T>G ENSP00000371511.3:n.690-2246T>G
NR_037951.1:n.765-2246T>G
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