Canonical Allele Identifier: CA14383687
Gene:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.63918895A>C , CM000679.2:g.63918895A>C GRCh38
NC_000017.10:g.61996255A>C , CM000679.1:g.61996255A>C GRCh37
NC_000017.9:g.59349987A>C NCBI36
NG_011676.1:g.4944T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000647774.1:c.289-389T>G