Canonical Allele Identifier: CA786695516
Gene:

Linked Data

dbSNP Id: rs1423872015
gnomAD v3: 4-12578092-A-C
gnomAD v4: 4-12578092-A-C
MyVariant Identifiers: chr4:g.12579716A>C (hg19) chr4:g.12578092A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.12578092A>C , CM000666.2:g.12578092A>C GRCh38
NC_000004.11:g.12579716A>C , CM000666.1:g.12579716A>C GRCh37
NC_000004.10:g.12188814A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_925406.1:n.106+31250T>G
XR_001741374.1:n.254+44563T>G
XR_925406.3:n.140+31250T>G
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