Canonical Allele Identifier: CA1022637956

Gene:

Linked Data

• dbSNP Id: rs1985727492
• gnomAD v3: 21-43168989-T-G
• gnomAD v4: 21-43168989-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.43168989T>G , CM000683.2:g.43168989T>G	GRCh38
NG_009823.1:g.4959T>G

Transcript Alleles

HGVS	Amino-acid Change
XR_001755073.1:n.647+2048A>C