Canonical Allele Identifier: CA20757622
Gene:

Linked Data

dbSNP Id: rs539672145
gnomAD v2: 1-34989183-C-T
gnomAD v3: 1-34523582-C-T
gnomAD v4: 1-34523582-C-T
MyVariant Identifiers: chr1:g.34989183C>T (hg19) chr1:g.34523582C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34523582C>T , CM000663.2:g.34523582C>T GRCh38
NC_000001.10:g.34989183C>T , CM000663.1:g.34989183C>T GRCh37
NC_000001.9:g.34761770C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_947171.1:n.1073+23997G>A
XR_001737964.1:n.991+23997G>A
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