Canonical Allele Identifier: CA23040711
Gene:

Linked Data

dbSNP Id: rs964607484
MyVariant Identifiers: chr1:g.56727885C>G (hg19) chr1:g.56262213C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.56262213C>G , CM000663.2:g.56262213C>G GRCh38
NC_000001.10:g.56727885C>G , CM000663.1:g.56727885C>G GRCh37
NC_000001.9:g.56500473C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000641109.1:c.760-13013G>C ENSP00000493138.1:n.760-13013G>C
ENST00000641346.1:c.367-13013G>C
ENST00000641415.1:c.193-8320G>C
ENST00000641494.1:c.379-13013G>C
ENST00000642129.1:c.769-13013G>C
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