Canonical Allele Identifier: CA2682630982
Gene: NPC1L1 HGNC NCBI

Linked Data

gnomAD v4: 7-44541364-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44541364G>T , CM000669.2:g.44541364G>T GRCh38
NC_000007.13:g.44580963G>T , CM000669.1:g.44580963G>T GRCh37
NC_000007.12:g.44547488G>T NCBI36
NG_013088.1:g.4952C>A

Transcript Alleles

HGVS Amino-acid Change
XM_011515326.3:c.-105C>A XP_011513628.1:n.-105C>A
XR_002956423.1:n.288C>A