Canonical Allele Identifier: CA575857523

Gene:

Linked Data

• dbSNP Id: rs1293043319
• gnomAD v2: 7-87543147-T-C
• gnomAD v3: 7-87913832-T-C
• gnomAD v4: 7-87913832-T-C
• MyVariant Identifiers: chr7:g.87543147T>C (hg19) ; chr7:g.87913832T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87913832T>C , CM000669.2:g.87913832T>C	GRCh38
NC_000007.13:g.87543147T>C , CM000669.1:g.87543147T>C	GRCh37
NC_000007.12:g.87381083T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_927723.1:n.148+69A>G
XR_927724.1:n.192+69A>G