Canonical Allele Identifier: CA800736746
Gene:

Linked Data

dbSNP Id: rs1293303039
gnomAD v3: 4-99474199-C-G
gnomAD v4: 4-99474199-C-G
MyVariant Identifiers: chr4:g.100395356C>G (hg19) chr4:g.99474199C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.99474199C>G , CM000666.2:g.99474199C>G GRCh38
NC_000004.11:g.100395356C>G , CM000666.1:g.100395356C>G GRCh37
NC_000004.10:g.100614379C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000506494.1:n.243-2337G>C
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