Canonical Allele Identifier: CA1085752598

Gene:

Linked Data

• dbSNP Id: rs1759189809
• gnomAD v3: 6-8169421-G-A
• gnomAD v4: 6-8169421-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.8169421G>A , CM000668.2:g.8169421G>A	GRCh38
NC_000006.11:g.8169654G>A , CM000668.1:g.8169654G>A	GRCh37
NC_000006.10:g.8114653G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_926440.1:n.82+11161G>A
XR_926441.1:n.189+1501G>A
XR_926442.1:n.82+11161G>A
XR_926443.1:n.82+11161G>A
XR_001743950.1:n.179+1501G>A
XR_926440.2:n.74+11161G>A
XR_926441.2:n.179+1501G>A
XR_926443.2:n.83+11161G>A