Canonical Allele Identifier: CA168905126

Gene:

Linked Data

• dbSNP Id: rs973779580
• gnomAD v3: 7-148807218-C-T
• gnomAD v4: 7-148807218-C-T
• MyVariant Identifiers: chr7:g.148504310C>T (hg19) ; chr7:g.148807218C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807218C>T , CM000669.2:g.148807218C>T	GRCh38
NC_000007.13:g.148504310C>T , CM000669.1:g.148504310C>T	GRCh37
NC_000007.12:g.148135243C>T	NCBI36
NG_032043.1:g.82132G>A , LRG_531:g.82132G>A

Transcript Alleles

HGVS	Amino-acid Change
XR_928101.1:n.515+2133C>T
XR_928102.1:n.722+2133C>T