Canonical Allele Identifier: CA93117935
Gene:

Linked Data

dbSNP Id: rs539816916
gnomAD v3: 4-12578369-A-C
gnomAD v4: 4-12578369-A-C
MyVariant Identifiers: chr4:g.12579993A>C (hg19) chr4:g.12578369A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.12578369A>C , CM000666.2:g.12578369A>C GRCh38
NC_000004.11:g.12579993A>C , CM000666.1:g.12579993A>C GRCh37
NC_000004.10:g.12189091A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_925406.1:n.106+30973T>G
XR_001741374.1:n.254+44286T>G
XR_925406.3:n.140+30973T>G
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