Canonical Allele Identifier: CA1108522415

Gene:

Linked Data

• dbSNP Id: rs1795950265
• gnomAD v3: 7-148560886-C-T
• gnomAD v4: 7-148560886-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.148560886C>T , CM000669.2:g.148560886C>T	GRCh38
NC_000007.13:g.148257978C>T , CM000669.1:g.148257978C>T	GRCh37
NC_000007.12:g.147888911C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
XR_928099.1:n.300+7214G>A
XR_928100.1:n.433+7214G>A