Canonical Allele Identifier: CA168906855

Gene:

Linked Data

• dbSNP Id: rs540055969
• gnomAD v3: 7-148560856-A-C
• gnomAD v4: 7-148560856-A-C
• MyVariant Identifiers: chr7:g.148257948A>C (hg19) ; chr7:g.148560856A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148560856A>C , CM000669.2:g.148560856A>C	GRCh38
NC_000007.13:g.148257948A>C , CM000669.1:g.148257948A>C	GRCh37
NC_000007.12:g.147888881A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_928099.1:n.300+7244T>G
XR_928100.1:n.433+7244T>G