Canonical Allele Identifier: CA101482560
Gene:

Linked Data

dbSNP Id: rs769187119
gnomAD v2: 4-90519008-A-C
gnomAD v3: 4-89597857-A-C
gnomAD v4: 4-89597857-A-C
MyVariant Identifiers: chr4:g.90519008A>C (hg19) chr4:g.89597857A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.89597857A>C , CM000666.2:g.89597857A>C GRCh38
NC_000004.11:g.90519008A>C , CM000666.1:g.90519008A>C GRCh37
NC_000004.10:g.90738031A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_938986.1:n.298+9917A>C
XR_938987.1:n.433-296A>C
XR_938988.1:n.299-296A>C
XR_938990.1:n.298+9917A>C
XR_938991.1:n.298+9917A>C
XR_938992.1:n.298+9917A>C
XR_938994.1:n.643+9917A>C
XR_938995.1:n.477+9917A>C
XR_938996.1:n.298+9917A>C
XR_938997.1:n.298+9917A>C
XR_938986.2:n.323+9917A>C
XR_938987.2:n.493-296A>C
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