Canonical Allele Identifier: CA573138636

Gene:

Linked Data

• dbSNP Id: rs1166099379
• gnomAD v2: 7-17997456-G-A
• gnomAD v3: 7-17957833-G-A
• gnomAD v4: 7-17957833-G-A
• MyVariant Identifiers: chr7:g.17997456G>A (hg19) ; chr7:g.17957833G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.17957833G>A , CM000669.2:g.17957833G>A	GRCh38
NC_000007.13:g.17997456G>A , CM000669.1:g.17997456G>A	GRCh37
NC_000007.12:g.17963981G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_927078.1:n.271-837G>A