Canonical Allele Identifier: CA1065916294

Gene:

Linked Data

• dbSNP Id: rs1722560793
• gnomAD v3: 4-99474277-A-G
• gnomAD v4: 4-99474277-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99474277A>G , CM000666.2:g.99474277A>G	GRCh38
NC_000004.11:g.100395434A>G , CM000666.1:g.100395434A>G	GRCh37
NC_000004.10:g.100614457A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506494.1:n.243-2415T>C