Canonical Allele Identifier: CA737156486
Gene:

Linked Data

dbSNP Id: rs1417468671
gnomAD v3: 1-56385037-A-G
gnomAD v4: 1-56385037-A-G
MyVariant Identifiers: chr1:g.56850709A>G (hg19) chr1:g.56385037A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.56385037A>G , CM000663.2:g.56385037A>G GRCh38
NC_000001.10:g.56850709A>G , CM000663.1:g.56850709A>G GRCh37
NC_000001.9:g.56623297A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000641109.1:c.759+93849T>C ENSP00000493138.1:n.759+93849T>C
ENST00000641346.1:c.366+15057T>C
ENST00000641415.1:c.192+98226T>C
ENST00000641494.1:c.378+98226T>C
ENST00000642129.1:c.768+98226T>C
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