Canonical Allele Identifier: CA539809463
Gene: DIRC3 HGNC NCBI

Linked Data

dbSNP Id: rs1375269565
gnomAD v2: 2-218310453-G-T
gnomAD v3: 2-217445730-G-T
gnomAD v4: 2-217445730-G-T
MyVariant Identifiers: chr2:g.218310453G>T (hg19) chr2:g.217445730G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.217445730G>T , CM000664.2:g.217445730G>T GRCh38
NC_000002.11:g.218310453G>T , CM000664.1:g.218310453G>T GRCh37
NC_000002.10:g.218018698G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000474063.5:n.500-11614C>A
ENST00000486365.5:n.1523-11614C>A
NR_026597.1:n.1523-11614C>A
NR_026597.2:n.1523-11614C>A
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