Canonical Allele Identifier: CA12978656
Gene:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.4389941G>C , CM000671.2:g.4389941G>C GRCh38
NC_000009.11:g.4389941G>C , CM000671.1:g.4389941G>C GRCh37
NC_000009.10:g.4379941G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_929447.1:n.192+41468C>G