Canonical Allele Identifier: CA11587578
Gene:

Linked Data

dbSNP Id: rs1516489
gnomAD v2: 3-191521852-A-C
gnomAD v3: 3-191804063-A-C
gnomAD v4: 3-191804063-A-C
MyVariant Identifiers: chr3:g.191521852A>C (hg19) chr3:g.191804063A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191804063A>C , CM000665.2:g.191804063A>C GRCh38
NC_000003.11:g.191521852A>C , CM000665.1:g.191521852A>C GRCh37
NC_000003.10:g.193004546A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_924825.1:n.116+4395T>G
XR_924826.1:n.116+4395T>G
XR_924825.2:n.103+4395T>G
XR_924826.2:n.103+4395T>G
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