Canonical Allele Identifier: CA4241450
Gene: NPC1L1 HGNC NCBI
ClinVar RCV:
RCV000455683
ClinVar Variation:
403257
dbSNP:
217428
gnomAD v2:
7:44555573 T / G
gnomAD v3:
7:44515974 T / G
gnomAD v4:
chr7-44515974-T-G
Joint Max Group AF 0.29402437 (AFR)
Genomes Max Group AF 0.28989172 (AFR)
Exomes Max Group AF 0.29610448 (AFR)
MyVariant.info:
GRCh38 chr7:g.44515974T>G
GRCh37 chr7:g.44555573T>G
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.44515974T>G , CM000669.2:g.44515974T>G GRCh38
NC_000007.13:g.44555573T>G , CM000669.1:g.44555573T>G GRCh37
NC_000007.12:g.44522098T>G NCBI36
NG_013088.1:g.30342A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000381160.8:c.3634-9A>C MANE Select ENSP00000370552.3:n.3634-9A>C
ENST00000289547.8:c.3715-9A>C ENSP00000289547.4:n.3715-9A>C
ENST00000381160.7:c.3634-9A>C ENSP00000370552.3:n.3634-9A>C
ENST00000546276.5:c.3496-9A>C ENSP00000438033.1:n.3496-9A>C
NM_001101648.1:c.3634-9A>C NP_001095118.1:n.3634-9A>C
NM_013389.2:c.3715-9A>C NP_037521.2:n.3715-9A>C
XM_011515326.1:c.3439-9A>C XP_011513628.1:n.3439-9A>C
XM_011515328.1:c.1993-9A>C XP_011513630.1:n.1993-9A>C
XM_011515326.3:c.3439-9A>C XP_011513628.1:n.3439-9A>C
XM_011515328.2:c.1993-9A>C XP_011513630.1:n.1993-9A>C
NM_001101648.2:c.3634-9A>C MANE Select NP_001095118.1:n.3634-9A>C
NM_013389.3:c.3715-9A>C NP_037521.2:n.3715-9A>C
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