Canonical Allele Identifier: CA737156480
Gene:
MyVariant.info:
GRCh38 chr1:g.56385014C>T
GRCh37 chr1:g.56850686C>T
gnomAD v3:
1:56385014 C / T
gnomAD v4:
chr1-56385014-C-T
Joint Max Group AF 0.00003248 (AFR)
Genomes Max Group AF 0.00003248 (AFR)
dbSNP:
11206801
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.56385014C>T , CM000663.2:g.56385014C>T GRCh38
NC_000001.10:g.56850686C>T , CM000663.1:g.56850686C>T GRCh37
NC_000001.9:g.56623274C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000641109.1:c.759+93872G>A ENSP00000493138.1:n.759+93872G>A
ENST00000641346.1:c.366+15080G>A
ENST00000641415.1:c.192+98249G>A
ENST00000641494.1:c.378+98249G>A
ENST00000642129.1:c.768+98249G>A
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