Canonical Allele Identifier: CA1062621935

Gene:

Linked Data

• dbSNP Id: rs1717633409
• gnomAD v3: 4-54072316-G-A
• gnomAD v4: 4-54072316-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54072316G>A , CM000666.2:g.54072316G>A	GRCh38
NC_000004.11:g.54938483G>A , CM000666.1:g.54938483G>A	GRCh37
NC_000004.10:g.54633240G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507166.5:c.1018-202609G>A	ENSP00000423325.1:n.1018-202609G>A