Canonical Allele Identifier: CA1120500452

Gene:

Linked Data

• dbSNP Id: rs1563774742
• gnomAD v3: 9-1787600-C-T
• gnomAD v4: 9-1787600-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.1787600C>T , CM000671.2:g.1787600C>T	GRCh38
NC_000009.11:g.1787600C>T , CM000671.1:g.1787600C>T	GRCh37
NC_000009.10:g.1777600C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001746599.1:n.142+68688C>T