Canonical Allele Identifier: CA157934632

Gene: NPC1L1

Linked Data

• dbSNP Id: rs370023510
• gnomAD v4: 7-44541403-G-A
• MyVariant Identifiers: chr7:g.44581002G>A (hg19) ; chr7:g.44541403G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.44541403G>A , CM000669.2:g.44541403G>A	GRCh38
NC_000007.13:g.44581002G>A , CM000669.1:g.44581002G>A	GRCh37
NC_000007.12:g.44547527G>A	NCBI36
NG_013088.1:g.4913C>T

Transcript Alleles

HGVS	Amino-acid change
XR_002956423.1:n.249C>T