Canonical Allele Identifier: CA1022637954

Gene:

Linked Data

• gnomAD v3: 21-43168985-T-C
• gnomAD v4: 21-43168985-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43168985T>C , CM000683.2:g.43168985T>C	GRCh38
NG_009823.1:g.4955T>C

Transcript Alleles

HGVS	Amino-acid Change
XR_001755073.1:n.647+2052A>G