Canonical Allele Identifier: CA337439264
Gene:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2823755G>A , CM000686.2:g.2823755G>A GRCh38
NC_000024.9:g.2691796G>A , CM000686.1:g.2691796G>A GRCh37
NC_000024.8:g.2751796G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.107-17731G>A
ENST00000681787.1:n.107-17273G>A
ENST00000681940.1:n.107-21891G>A