Canonical Allele Identifier: CA337625451
Gene:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8707968A>C , CM000686.2:g.8707968A>C GRCh38
NC_000024.9:g.8576009A>C , CM000686.1:g.8576009A>C GRCh37
NC_000024.8:g.8636009A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000623558.1:c.139+8936A>C ENSP00000485446.1:n.139+8936A>C
ENST00000624593.1:c.-57+40748T>G ENSP00000485106.1:n.-57+40748T>G