Canonical Allele Identifier: CA1100909305

Gene:

Linked Data

• dbSNP Id: rs1784761767
• gnomAD v3: 7-46032860-C-G
• gnomAD v4: 7-46032860-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.46032860C>G , CM000669.2:g.46032860C>G	GRCh38
NC_000007.13:g.46072458C>G , CM000669.1:g.46072458C>G	GRCh37
NC_000007.12:g.46038983C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745203.1:n.1270-3758C>G