Canonical Allele Identifier: CA838797709
Gene: NPC1L1 HGNC NCBI

Linked Data

dbSNP Id: rs1278923705
gnomAD v3: 7-44541410-G-T
gnomAD v4: 7-44541410-G-T
MyVariant Identifiers: chr7:g.44581009G>T (hg19) chr7:g.44541410G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44541410G>T , CM000669.2:g.44541410G>T GRCh38
NC_000007.13:g.44581009G>T , CM000669.1:g.44581009G>T GRCh37
NC_000007.12:g.44547534G>T NCBI36
NG_013088.1:g.4906C>A

Transcript Alleles

HGVS Amino-acid Change
XR_002956423.1:n.242C>A
Search 100 bp 5'
Search 100 bp 3'