Canonical Allele Identifier: CA11738244
Gene:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.164987569A>G , CM000666.2:g.164987569A>G GRCh38
NC_000004.11:g.165908721A>G , CM000666.1:g.165908721A>G GRCh37
NC_000004.10:g.166128171A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000510050.1:n.305A>G