Canonical Allele Identifier: CA23054263
Gene:

Linked Data

dbSNP Id: rs774435137
gnomAD v2: 1-56850687-G-A
gnomAD v3: 1-56385015-G-A
gnomAD v4: 1-56385015-G-A
MyVariant Identifiers: chr1:g.56850687G>A (hg19) chr1:g.56385015G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.56385015G>A , CM000663.2:g.56385015G>A GRCh38
NC_000001.10:g.56850687G>A , CM000663.1:g.56850687G>A GRCh37
NC_000001.9:g.56623275G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000641109.1:c.759+93871C>T ENSP00000493138.1:n.759+93871C>T
ENST00000641346.1:c.366+15079C>T
ENST00000641415.1:c.192+98248C>T
ENST00000641494.1:c.378+98248C>T
ENST00000642129.1:c.768+98248C>T
Search 100 bp 5'
Search 100 bp 3'