Canonical Allele Identifier: CA577662565

Gene:

Linked Data

• dbSNP Id: rs1480880641
• gnomAD v2: 7-123946317-T-G
• gnomAD v3: 7-124306263-T-G
• gnomAD v4: 7-124306263-T-G
• MyVariant Identifiers: chr7:g.123946317T>G (hg19) ; chr7:g.124306263T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.124306263T>G , CM000669.2:g.124306263T>G	GRCh38
NC_000007.13:g.123946317T>G , CM000669.1:g.123946317T>G	GRCh37
NC_000007.12:g.123733553T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_002956584.1:n.73-215T>G