Canonical Allele Identifier: CA1049416463

Gene:

Linked Data

• dbSNP Id: rs1704108659
• gnomAD v3: 3-72266878-C-T
• gnomAD v4: 3-72266878-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.72266878C>T , CM000665.2:g.72266878C>T	GRCh38
NC_000003.11:g.72316029C>T , CM000665.1:g.72316029C>T	GRCh37
NC_000003.10:g.72398719C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_940958.1:n.835+8230G>A