Canonical Allele Identifier: CA107997257

Gene:

Linked Data

• dbSNP Id: rs1031246534
• gnomAD v3: 4-148748452-G-A
• gnomAD v4: 4-148748452-G-A
• MyVariant Identifiers: chr4:g.149669604G>A (hg19) ; chr4:g.148748452G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.148748452G>A , CM000666.2:g.148748452G>A	GRCh38
NC_000004.11:g.149669604G>A , CM000666.1:g.149669604G>A	GRCh37
NC_000004.10:g.149889054G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001741441.1:n.1746-118305G>A