Canonical Allele Identifier: CA730997178
Gene:

Linked Data

dbSNP Id: rs1240154619
gnomAD v3: 1-211379532-A-G
gnomAD v4: 1-211379532-A-G
MyVariant Identifiers: chr1:g.211552874A>G (hg19) chr1:g.211379532A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.211379532A>G , CM000663.2:g.211379532A>G GRCh38
NC_000001.10:g.211552874A>G , CM000663.1:g.211552874A>G GRCh37
NC_000001.9:g.209619497A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001738446.1:n.292-2416T>C
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