Canonical Allele Identifier: CA2590530698
Gene:

Linked Data

gnomAD v3: 11-2444557-G-C
gnomAD v4: 11-2444557-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444557G>C , CM000673.2:g.2444557G>C GRCh38
NC_000011.9:g.2465787G>C , CM000673.1:g.2465787G>C GRCh37
NC_000011.8:g.2422363G>C NCBI36
NG_008935.1:g.4567G>C , LRG_287:g.4567G>C

Transcript Alleles

HGVS Amino-acid Change
XR_930984.1:n.14C>G