Canonical Allele Identifier: CA1116376133

Gene:

Linked Data

• dbSNP Id: rs1808586139
• gnomAD v3: 8-88981229-C-A
• gnomAD v4: 8-88981229-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.88981229C>A , CM000670.2:g.88981229C>A	GRCh38
NC_000008.10:g.89993458C>A , CM000670.1:g.89993458C>A	GRCh37
NC_000008.9:g.90062574C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_002956667.1:n.179-99168G>T