Canonical Allele Identifier: CA157934602
Gene: NPC1L1 HGNC NCBI

Linked Data

dbSNP Id: rs911278722
gnomAD v3: 7-44541351-G-A
gnomAD v4: 7-44541351-G-A
MyVariant Identifiers: chr7:g.44580950G>A (hg19) chr7:g.44541351G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44541351G>A , CM000669.2:g.44541351G>A GRCh38
NC_000007.13:g.44580950G>A , CM000669.1:g.44580950G>A GRCh37
NC_000007.12:g.44547475G>A NCBI36
NG_013088.1:g.4965C>T

Transcript Alleles

HGVS Amino-acid Change
XM_011515326.3:c.-92C>T XP_011513628.1:n.-92C>T
XR_002956423.1:n.301C>T
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