Canonical Allele Identifier: CA1118991767

Gene:

Linked Data

• dbSNP Id: rs1814931578
• gnomAD v3: 8-126999152-A-G
• gnomAD v4: 8-126999152-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.126999152A>G , CM000670.2:g.126999152A>G	GRCh38
NC_000008.10:g.128011397A>G , CM000670.1:g.128011397A>G	GRCh37
NC_000008.9:g.128080579A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001746076.2:n.1301-7403A>G