Canonical Allele Identifier: CA1008923836

Gene:

Linked Data

• dbSNP Id: rs1648341924
• gnomAD v3: 1-168649219-G-A
• gnomAD v4: 1-168649219-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.168649219G>A , CM000663.2:g.168649219G>A	GRCh38
NC_000001.10:g.168618457G>A , CM000663.1:g.168618457G>A	GRCh37
NC_000001.9:g.166885081G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_922259.1:n.201-7944C>T
XR_922259.2:n.332-7944C>T