Canonical Allele Identifier: CA527707464
Gene:

Linked Data

dbSNP Id: rs1474775378
gnomAD v2: 1-193090873-G-A
gnomAD v3: 1-193121743-G-A
gnomAD v4: 1-193121743-G-A
MyVariant Identifiers: chr1:g.193090873G>A (hg19) chr1:g.193121743G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.193121743G>A , CM000663.2:g.193121743G>A GRCh38
NC_000001.10:g.193090873G>A , CM000663.1:g.193090873G>A GRCh37
NC_000001.9:g.191357496G>A NCBI36
NG_012691.1:g.4786G>A , LRG_507:g.4786G>A

Transcript Alleles

HGVS Amino-acid Change
XR_001738350.1:n.1914C>T
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