Canonical Allele Identifier: CA23040715
Gene:

Linked Data

dbSNP Id: rs371699668
gnomAD v2: 1-56727929-G-T
gnomAD v3: 1-56262257-G-T
gnomAD v4: 1-56262257-G-T
MyVariant Identifiers: chr1:g.56727929G>T (hg19) chr1:g.56262257G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.56262257G>T , CM000663.2:g.56262257G>T GRCh38
NC_000001.10:g.56727929G>T , CM000663.1:g.56727929G>T GRCh37
NC_000001.9:g.56500517G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000641109.1:c.760-13057C>A ENSP00000493138.1:n.760-13057C>A
ENST00000641346.1:c.367-13057C>A
ENST00000641415.1:c.193-8364C>A
ENST00000641494.1:c.379-13057C>A
ENST00000642129.1:c.769-13057C>A
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