Canonical Allele Identifier: CA2682630937
Gene: NPC1L1 HGNC NCBI

Linked Data

gnomAD v4: 7-44541347-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44541347C>A , CM000669.2:g.44541347C>A GRCh38
NC_000007.13:g.44580946C>A , CM000669.1:g.44580946C>A GRCh37
NC_000007.12:g.44547471C>A NCBI36
NG_013088.1:g.4969G>T

Transcript Alleles

HGVS Amino-acid Change
XM_011515326.3:c.-88G>T XP_011513628.1:n.-88G>T
XR_002956423.1:n.305G>T