Canonical Allele Identifier: CA577662571

Gene:

Linked Data

• dbSNP Id: rs1318144464
• gnomAD v2: 7-123946487-C-T
• gnomAD v3: 7-124306433-C-T
• gnomAD v4: 7-124306433-C-T
• MyVariant Identifiers: chr7:g.123946487C>T (hg19) ; chr7:g.124306433C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.124306433C>T , CM000669.2:g.124306433C>T	GRCh38
NC_000007.13:g.123946487C>T , CM000669.1:g.123946487C>T	GRCh37
NC_000007.12:g.123733723C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_002956584.1:n.73-45C>T