Canonical Allele Identifier: CA8442386
Gene: SLC47A1 HGNC NCBI
COSMIC:
COSM1226404 (not active)
MyVariant.info:
GRCh38 chr17:g.19560278G>A
GRCh37 chr17:g.19463591G>A
Revel Score:
ENST00000436810 0.021
ENST00000270570 (MANE Select) 0.021
ENST00000457293 0.021
ENST00000395585 0.021
ENST00000455670 0.021
ENST00000424755 0.021
gnomAD v2:
17:19463591 G / A
gnomAD v3:
17:19560278 G / A
gnomAD v4:
chr17-19560278-G-A
Joint Max Group AF 0.0604359 (AFR)
Genomes Max Group AF 0.05797398 (AFR)
Exomes Max Group AF 0.06212165 (AFR)
dbSNP:
35790011
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.19560278G>A , CM000679.2:g.19560278G>A GRCh38
NC_000017.10:g.19463591G>A , CM000679.1:g.19463591G>A GRCh37
NC_000017.9:g.19404183G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000270570.8:c.1012G>A MANE Select ENSP00000270570.4:p.Val338Ile
ENST00000395585.5:c.1012G>A ENSP00000378951.1:p.Val338Ile
ENST00000436810.6:c.943G>A ENSP00000407155.2:p.Val315Ile
ENST00000495425.6:n.455G>A
ENST00000497548.5:n.1068+4216G>A
ENST00000571335.5:c.427G>A ENSP00000462630.1:p.Val143Ile
ENST00000573009.1:n.340G>A
ENST00000575023.5:c.498+10601G>A ENSP00000460164.1:n.498+10601G>A
ENST00000575377.5:n.277G>A
NM_018242.2:c.1012G>A NP_060712.2:p.Val338Ile
NM_018242.3:c.1012G>A MANE Select NP_060712.2:p.Val338Ile
Search 100 bp 5'
Search 100 bp 3'