Canonical Allele Identifier: CA1062643758

Gene:

Linked Data

• dbSNP Id: rs1720483152
• gnomAD v3: 4-54228463-C-A
• gnomAD v4: 4-54228463-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.54228463C>A , CM000666.2:g.54228463C>A	GRCh38
NC_000004.11:g.55094630C>A , CM000666.1:g.55094630C>A	GRCh37
NC_000004.10:g.54789387C>A	NCBI36
NG_009250.1:g.4367C>A , LRG_309:g.4367C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507166.5:c.1018-46462C>A	ENSP00000423325.1:n.1018-46462C>A