Canonical Allele Identifier: CA573138640

Gene:

Linked Data

• dbSNP Id: rs1304064448
• gnomAD v2: 7-17997538-A-G
• gnomAD v3: 7-17957915-A-G
• gnomAD v4: 7-17957915-A-G
• MyVariant Identifiers: chr7:g.17997538A>G (hg19) ; chr7:g.17957915A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.17957915A>G , CM000669.2:g.17957915A>G	GRCh38
NC_000007.13:g.17997538A>G , CM000669.1:g.17997538A>G	GRCh37
NC_000007.12:g.17964063A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_927078.1:n.271-755A>G