Canonical Allele Identifier: CA1100779275
Gene: NPC1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1802098198
gnomAD v3: 7-44541337-G-T
gnomAD v4: 7-44541337-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44541337G>T , CM000669.2:g.44541337G>T GRCh38
NC_000007.13:g.44580936G>T , CM000669.1:g.44580936G>T GRCh37
NC_000007.12:g.44547461G>T NCBI36
NG_013088.1:g.4979C>A

Transcript Alleles

HGVS Amino-acid Change
XM_011515326.3:c.-78C>A XP_011513628.1:n.-78C>A
XR_002956423.1:n.315C>A
Search 100 bp 5'
Search 100 bp 3'