Canonical Allele Identifier: CA107997253

Gene:

Linked Data

• dbSNP Id: rs74929643
• gnomAD v2: 4-149669573-G-A
• gnomAD v3: 4-148748421-G-A
• gnomAD v4: 4-148748421-G-A
• MyVariant Identifiers: chr4:g.149669573G>A (hg19) ; chr4:g.148748421G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.148748421G>A , CM000666.2:g.148748421G>A	GRCh38
NC_000004.11:g.149669573G>A , CM000666.1:g.149669573G>A	GRCh37
NC_000004.10:g.149889023G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001741441.1:n.1746-118336G>A