Canonical Allele Identifier: CA583522227
Gene:

Linked Data

dbSNP Id: rs1255999446
gnomAD v2: 8-89592013-A-C
gnomAD v3: 8-88579784-A-C
gnomAD v4: 8-88579784-A-C
MyVariant Identifiers: chr8:g.89592013A>C (hg19) chr8:g.88579784A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.88579784A>C , CM000670.2:g.88579784A>C GRCh38
NC_000008.10:g.89592013A>C , CM000670.1:g.89592013A>C GRCh37
NC_000008.9:g.89661129A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_928383.1:n.329+8607T>G
XR_001745651.2:n.1081+8607T>G
XR_001745653.2:n.416+36974A>C
XR_928383.3:n.1081+8607T>G
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