Canonical Allele Identifier: CA12537845
Gene: NPC1L1 HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.44541392T>C
GRCh37 chr7:g.44580991T>C
gnomAD v2:
7:44580991 T / C
gnomAD v3:
7:44541392 T / C
gnomAD v4:
chr7-44541392-T-C
Joint Max Group AF 0.31923 (NFE)
Genomes Max Group AF 0.31231438 (NFE)
Exomes Max Group AF 0.31991011 (NFE)
dbSNP:
17655652
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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'