Canonical Allele Identifier: CA168907002

Gene:

Linked Data

• dbSNP Id: rs144403594
• gnomAD v2: 7-148258099-A-G
• gnomAD v3: 7-148561007-A-G
• gnomAD v4: 7-148561007-A-G
• MyVariant Identifiers: chr7:g.148258099A>G (hg19) ; chr7:g.148561007A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148561007A>G , CM000669.2:g.148561007A>G	GRCh38
NC_000007.13:g.148258099A>G , CM000669.1:g.148258099A>G	GRCh37
NC_000007.12:g.147889032A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_928099.1:n.300+7093T>C
XR_928100.1:n.433+7093T>C