Canonical Allele Identifier: CA1065916278

Gene:

Linked Data

• dbSNP Id: rs148915469
• gnomAD v3: 4-99474257-A-G
• gnomAD v4: 4-99474257-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.99474257A>G , CM000666.2:g.99474257A>G	GRCh38
NC_000004.11:g.100395414A>G , CM000666.1:g.100395414A>G	GRCh37
NC_000004.10:g.100614437A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000506494.1:n.243-2395T>C