Canonical Allele Identifier: CA12537845
Gene: NPC1L1 HGNC NCBI

Linked Data

dbSNP Id: rs17655652
gnomAD v2: 7-44580991-T-C
gnomAD v3: 7-44541392-T-C
gnomAD v4: 7-44541392-T-C
MyVariant Identifiers: chr7:g.44580991T>C (hg19) chr7:g.44541392T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44541392T>C , CM000669.2:g.44541392T>C GRCh38
NC_000007.13:g.44580991T>C , CM000669.1:g.44580991T>C GRCh37
NC_000007.12:g.44547516T>C NCBI36
NG_013088.1:g.4924A>G

Transcript Alleles

HGVS Amino-acid change
XR_002956423.1:n.260A>G
Search 100 bp 5'
Search 100 bp 3'