Canonical Allele Identifier: CA576613509

Gene:

Linked Data

• dbSNP Id: rs1172660815
• gnomAD v2: 7-97017653-T-C
• gnomAD v3: 7-97388341-T-C
• gnomAD v4: 7-97388341-T-C
• MyVariant Identifiers: chr7:g.97017653T>C (hg19) ; chr7:g.97388341T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.97388341T>C , CM000669.2:g.97388341T>C	GRCh38
NC_000007.13:g.97017653T>C , CM000669.1:g.97017653T>C	GRCh37
NC_000007.12:g.96855589T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_001745293.1:n.127-59694A>G