Canonical Allele Identifier: CA168905125

Gene:

Linked Data

• dbSNP Id: rs963430747
• gnomAD v3: 7-148807216-C-A
• gnomAD v4: 7-148807216-C-A
• MyVariant Identifiers: chr7:g.148504308C>A (hg19) ; chr7:g.148807216C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807216C>A , CM000669.2:g.148807216C>A	GRCh38
NC_000007.13:g.148504308C>A , CM000669.1:g.148504308C>A	GRCh37
NC_000007.12:g.148135241C>A	NCBI36
NG_032043.1:g.82134G>T , LRG_531:g.82134G>T

Transcript Alleles

HGVS	Amino-acid Change
XR_928101.1:n.515+2131C>A
XR_928102.1:n.722+2131C>A