Canonical Allele Identifier: CA168905131

Gene:

Linked Data

• dbSNP Id: rs921972142
• gnomAD v3: 7-148807231-C-T
• gnomAD v4: 7-148807231-C-T
• MyVariant Identifiers: chr7:g.148504323C>T (hg19) ; chr7:g.148807231C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148807231C>T , CM000669.2:g.148807231C>T	GRCh38
NC_000007.13:g.148504323C>T , CM000669.1:g.148504323C>T	GRCh37
NC_000007.12:g.148135256C>T	NCBI36
NG_032043.1:g.82119G>A , LRG_531:g.82119G>A

Transcript Alleles

HGVS	Amino-acid Change
XR_928101.1:n.515+2146C>T
XR_928102.1:n.722+2146C>T