Canonical Allele Identifier: CA93117886
Gene:

Linked Data

dbSNP Id: rs562665543
gnomAD v3: 4-12578018-T-C
gnomAD v4: 4-12578018-T-C
MyVariant Identifiers: chr4:g.12579642T>C (hg19) chr4:g.12578018T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.12578018T>C , CM000666.2:g.12578018T>C GRCh38
NC_000004.11:g.12579642T>C , CM000666.1:g.12579642T>C GRCh37
NC_000004.10:g.12188740T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_925406.1:n.106+31324A>G
XR_001741374.1:n.254+44637A>G
XR_925406.3:n.140+31324A>G
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