Canonical Allele Identifier: CA1817442017

Gene:

Linked Data

• dbSNP Id: rs1271457253
• gnomAD v3: 8-125478749-A-G
• gnomAD v4: 8-125478749-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.125478749A>G , CM000670.2:g.125478749A>G	GRCh38
NC_000008.10:g.126490991A>G , CM000670.1:g.126490991A>G	GRCh37
NC_000008.9:g.126560173A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_928628.1:n.256+5435A>G