Canonical Allele Identifier: CA1108522448

Gene:

Linked Data

• dbSNP Id: rs1795951165
• gnomAD v3: 7-148560972-G-C
• gnomAD v4: 7-148560972-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148560972G>C , CM000669.2:g.148560972G>C	GRCh38
NC_000007.13:g.148258064G>C , CM000669.1:g.148258064G>C	GRCh37
NC_000007.12:g.147888997G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_928099.1:n.300+7128C>G
XR_928100.1:n.433+7128C>G