Canonical Allele Identifier: CA1118991771

Gene:

Linked Data

• dbSNP Id: rs1814931748
• gnomAD v3: 8-126999166-A-G
• gnomAD v4: 8-126999166-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.126999166A>G , CM000670.2:g.126999166A>G	GRCh38
NC_000008.10:g.128011411A>G , CM000670.1:g.128011411A>G	GRCh37
NC_000008.9:g.128080593A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001746076.2:n.1301-7389A>G