Canonical Allele Identifier: CA107971403
Gene:

Linked Data

dbSNP Id: rs182911485
gnomAD v3: 4-148649562-A-C
gnomAD v4: 4-148649562-A-C
MyVariant Identifiers: chr4:g.149570714A>C (hg19) chr4:g.148649562A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.148649562A>C , CM000666.2:g.148649562A>C GRCh38
NC_000004.11:g.149570714A>C , CM000666.1:g.149570714A>C GRCh37
NC_000004.10:g.149790164A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_939336.1:n.437-30694T>G
XR_001741441.1:n.1745+104978A>C
XR_939336.3:n.2921-30694T>G
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