Canonical Allele Identifier: CA172279504
Gene:

Linked Data

dbSNP Id: rs958511996
gnomAD v3: 8-9400143-G-A
gnomAD v4: 8-9400143-G-A
MyVariant Identifiers: chr8:g.9257653G>A (hg19) chr8:g.9400143G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.9400143G>A , CM000670.2:g.9400143G>A GRCh38
NC_000008.10:g.9257653G>A , CM000670.1:g.9257653G>A GRCh37
NC_000008.9:g.9295063G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_948936.1:n.185+3802C>T
XR_948940.1:n.96-3720G>A
XR_948941.1:n.96-13506G>A
XR_002956685.1:n.99-3720G>A
XR_948940.2:n.99-3720G>A
XR_948941.2:n.99-13506G>A
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