Canonical Allele Identifier: CA10654512

Gene: PSEN1

Linked Data

• ClinVar Variation Id: 369076
• ClinVar RCV Id: RCV000314754 ; RCV000408289 ; RCV001512125
• dbSNP Id: rs1800839
• gnomAD v2: 14-73603131-C-T
• gnomAD v3: 14-73136423-C-T
• gnomAD v4: 14-73136423-C-T
• MyVariant Identifiers: chr14:g.73603131C>T (hg19) ; chr14:g.73136423C>T (hg38)
• PubMed: PMID:11389157

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73136423C>T , CM000676.2:g.73136423C>T	GRCh38
NC_000014.8:g.73603131C>T , CM000676.1:g.73603131C>T	GRCh37
NC_000014.7:g.72672884C>T	NCBI36
NG_007386.2:g.4953C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557356.5:c.-161C>T	ENSP00000451498.1:n.-161C>T