Canonical Allele Identifier: CA1049416233

Gene:

Linked Data

• dbSNP Id: rs1704105083
• gnomAD v3: 3-72266682-A-G
• gnomAD v4: 3-72266682-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.72266682A>G , CM000665.2:g.72266682A>G	GRCh38
NC_000003.11:g.72315833A>G , CM000665.1:g.72315833A>G	GRCh37
NC_000003.10:g.72398523A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_940958.1:n.835+8426T>C