Canonical Allele Identifier: CA1118842591

Gene:

Linked Data

• dbSNP Id: rs1815191679
• gnomAD v3: 8-125474130-A-G
• gnomAD v4: 8-125474130-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125474130A>G , CM000670.2:g.125474130A>G	GRCh38
NC_000008.10:g.126486372A>G , CM000670.1:g.126486372A>G	GRCh37
NC_000008.9:g.126555554A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+816A>G