Canonical Allele Identifier: CA160479205

Gene:

Linked Data

• dbSNP Id: rs139071171
• gnomAD v2: 7-68611914-G-A
• gnomAD v3: 7-69146927-G-A
• gnomAD v4: 7-69146927-G-A
• MyVariant Identifiers: chr7:g.68611914G>A (hg19) ; chr7:g.69146927G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.69146927G>A , CM000669.2:g.69146927G>A	GRCh38
NC_000007.13:g.68611914G>A , CM000669.1:g.68611914G>A	GRCh37
NC_000007.12:g.68249850G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_927647.1:n.88-801C>T