Canonical Allele Identifier: CA154890384

Gene:

Linked Data

• dbSNP Id: rs775489186
• gnomAD v2: 7-17997585-G-A
• gnomAD v3: 7-17957962-G-A
• gnomAD v4: 7-17957962-G-A
• MyVariant Identifiers: chr7:g.17997585G>A (hg19) ; chr7:g.17957962G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.17957962G>A , CM000669.2:g.17957962G>A	GRCh38
NC_000007.13:g.17997585G>A , CM000669.1:g.17997585G>A	GRCh37
NC_000007.12:g.17964110G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_927078.1:n.271-708G>A