Canonical Allele Identifier: CA1064182253

Gene:

Linked Data

• dbSNP Id: rs1721063181
• gnomAD v3: 4-74554100-A-G
• gnomAD v4: 4-74554100-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.74554100A>G , CM000666.2:g.74554100A>G	GRCh38
NC_000004.11:g.75419817A>G , CM000666.1:g.75419817A>G	GRCh37
NC_000004.10:g.75638681A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001741513.1:n.167-1268T>C