Canonical Allele Identifier: CA2589281685

Gene:

Linked Data

• gnomAD v3: Y-8734292-C-G
• gnomAD v4: Y-8734292-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.8734292C>G , CM000686.2:g.8734292C>G	GRCh38
NC_000024.9:g.8602333C>G , CM000686.1:g.8602333C>G	GRCh37
NC_000024.8:g.8662333C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623558.1:c.197-5538C>G	ENSP00000485446.1:n.197-5538C>G
ENST00000624237.1:c.64-7763C>G	ENSP00000485137.1:n.64-7763C>G
ENST00000624593.1:c.-57+14424G>C	ENSP00000485106.1:n.-57+14424G>C