Canonical Allele Identifier: CA163625053

Gene:

Linked Data

• dbSNP Id: rs144450118
• gnomAD v2: 7-97017904-C-T
• gnomAD v3: 7-97388592-C-T
• gnomAD v4: 7-97388592-C-T
• MyVariant Identifiers: chr7:g.97017904C>T (hg19) ; chr7:g.97388592C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.97388592C>T , CM000669.2:g.97388592C>T	GRCh38
NC_000007.13:g.97017904C>T , CM000669.1:g.97017904C>T	GRCh37
NC_000007.12:g.96855840C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001745293.1:n.127-59945G>A