Canonical Allele Identifier: CA539809455

Gene: DIRC3

Linked Data

• dbSNP Id: rs1177517781
• gnomAD v2: 2-218310352-C-A
• gnomAD v3: 2-217445629-C-A
• gnomAD v4: 2-217445629-C-A
• MyVariant Identifiers: chr2:g.218310352C>A (hg19) ; chr2:g.217445629C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.217445629C>A , CM000664.2:g.217445629C>A	GRCh38
NC_000002.11:g.218310352C>A , CM000664.1:g.218310352C>A	GRCh37
NC_000002.10:g.218018597C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000474063.5:n.500-11513G>T
ENST00000486365.5:n.1523-11513G>T
NR_026597.1:n.1523-11513G>T
NR_026597.2:n.1523-11513G>T