Canonical Allele Identifier: CA1138946758

Gene:

Linked Data

• gnomAD v3: Y-8734216-C-A
• gnomAD v4: Y-8734216-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.8734216C>A , CM000686.2:g.8734216C>A	GRCh38
NC_000024.9:g.8602257C>A , CM000686.1:g.8602257C>A	GRCh37
NC_000024.8:g.8662257C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000623558.1:c.197-5614C>A	ENSP00000485446.1:n.197-5614C>A
ENST00000624237.1:c.64-7839C>A	ENSP00000485137.1:n.64-7839C>A
ENST00000624593.1:c.-57+14500G>T	ENSP00000485106.1:n.-57+14500G>T